Douglas Wallace

Summary

Affiliation: University of California
Country: USA

Publications

  1. pmc A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine
    Douglas C Wallace
    Center for Molecular and Mitochondrial Medicine and Genetics, Department of Ecology and Evolutionary Biology, University of California, Irvine, California 92697 3940, USA
    Annu Rev Genet 39:359-407. 2005
  2. ncbi Effects of purifying and adaptive selection on regional variation in human mtDNA
    Eduardo Ruiz-Pesini
    Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697 3940, USA
    Science 303:223-6. 2004
  3. pmc Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups
    Elena B Starikovskaya
    Laboratory of Human Molecular Genetics, Institute of Cytology and Genetics, Siberian Division, Russian Academy of Sciences, Novosibirsk 630090, Russia Federation
    Ann Hum Genet 69:67-89. 2005
  4. ncbi Differences of sperm motility in mitochondrial DNA haplogroup U sublineages
    Francisco Montiel-Sosa
    Departamento de Bioquimica, Biologia Molecular y Celular, Universidad de Zaragoza, C Miguel Servet 177, 50013 Zaragoza, Spain
    Gene 368:21-7. 2006
  5. pmc A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations
    Weiwei Fan
    Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697, USA
    Science 319:958-62. 2008
  6. pmc An enhanced MITOMAP with a global mtDNA mutational phylogeny
    Eduardo Ruiz-Pesini
    Center for Molecular and Mitochondrial Medicine and Genetics MAMMAG and Departments of Biological Chemistry, Ecology and Evolutionary Biology, and Pediatrics, University of California, Irvine, CA 92697 3900, USA
    Nucleic Acids Res 35:D823-8. 2007
  7. pmc TGF-beta1 induction of the adenine nucleotide translocator 1 in astrocytes occurs through Smads and Sp1 transcription factors
    Alick K T Law
    Department of Physiology, Emory University, Atlanta, USA
    BMC Neurosci 5:1. 2004
  8. pmc Mitochondria, bioenergetics, and the epigenome in eukaryotic and human evolution
    D C Wallace
    ORU for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697 3940, USA
    Cold Spring Harb Symp Quant Biol 74:383-93. 2009
  9. pmc The pathophysiology of mitochondrial disease as modeled in the mouse
    Douglas C Wallace
    Organizational Research Unit for Molecular and Mitochondrial Medicine and Genetics, University of California at Irvine, Irvine, California 92697, USA
    Genes Dev 23:1714-36. 2009
  10. pmc Energetics, epigenetics, mitochondrial genetics
    Douglas C Wallace
    Center for Molecular and Mitochondrial Medicine and Genetics MAMMAG, University of California, Irvine, CA 92697 3940, USA
    Mitochondrion 10:12-31. 2010

Research Grants

  1. MITOCHONDRIAL GENETICS AND AGING
    Douglas Wallace; Fiscal Year: 2005
  2. Mitochondrial Inborn Errors in Metabolism
    Douglas Wallace; Fiscal Year: 2009
  3. Mitochondrial Inborn Errors in Metabolism
    Douglas Wallace; Fiscal Year: 2009
  4. A Mitochondrial Etiology of Autism
    Douglas C Wallace; Fiscal Year: 2010
  5. Mitochondrial Diabetes & Manganic Porphyrin Treatment
    Douglas C Wallace; Fiscal Year: 2010
  6. Mitochondrial Inborn Errors in Metabolism
    Douglas C Wallace; Fiscal Year: 2010
  7. Adaptive Physiology of mtDNA Longevity Mutations
    Douglas Wallace; Fiscal Year: 2006
  8. Mitochondrial Diabetes & Manganic Porphyrin Treatment
    Douglas Wallace; Fiscal Year: 2007
  9. ANT Defects in Neurodegenerative Diseases
    Douglas Wallace; Fiscal Year: 2001
  10. Mitochondrial Inborn Errors in Metabolism
    Douglas Wallace; Fiscal Year: 2008

Detail Information

Publications65

  1. pmc A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine
    Douglas C Wallace
    Center for Molecular and Mitochondrial Medicine and Genetics, Department of Ecology and Evolutionary Biology, University of California, Irvine, California 92697 3940, USA
    Annu Rev Genet 39:359-407. 2005
    ..Therefore the mitochondria provide a direct link between our environment and our genes and the mtDNA variants that permitted our forbears to energetically adapt to their ancestral homes are influencing our health today...
  2. ncbi Effects of purifying and adaptive selection on regional variation in human mtDNA
    Eduardo Ruiz-Pesini
    Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697 3940, USA
    Science 303:223-6. 2004
    ..Thus, specific mtDNA replacement mutations permitted our ancestors to adapt to more northern climates, and these same variants are influencing our health today...
  3. pmc Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups
    Elena B Starikovskaya
    Laboratory of Human Molecular Genetics, Institute of Cytology and Genetics, Siberian Division, Russian Academy of Sciences, Novosibirsk 630090, Russia Federation
    Ann Hum Genet 69:67-89. 2005
    ....
  4. ncbi Differences of sperm motility in mitochondrial DNA haplogroup U sublineages
    Francisco Montiel-Sosa
    Departamento de Bioquimica, Biologia Molecular y Celular, Universidad de Zaragoza, C Miguel Servet 177, 50013 Zaragoza, Spain
    Gene 368:21-7. 2006
    ..We suggest that some of these ancient conserved cytb missense mutations permitted our ancestors to adapt to cold by partially uncoupling mitochondrial oxidative phosphorylation (OXPHOS)...
  5. pmc A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations
    Weiwei Fan
    Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697, USA
    Science 319:958-62. 2008
    ..Thus, severe mtDNA mutations appear to be selectively eliminated from the female germ line, thereby minimizing their impact on population fitness...
  6. pmc An enhanced MITOMAP with a global mtDNA mutational phylogeny
    Eduardo Ruiz-Pesini
    Center for Molecular and Mitochondrial Medicine and Genetics MAMMAG and Departments of Biological Chemistry, Ecology and Evolutionary Biology, and Pediatrics, University of California, Irvine, CA 92697 3900, USA
    Nucleic Acids Res 35:D823-8. 2007
    ..These additions position MITOMAP for the implementation of our automated mtDNA sequence analysis system, Mitomaster...
  7. pmc TGF-beta1 induction of the adenine nucleotide translocator 1 in astrocytes occurs through Smads and Sp1 transcription factors
    Alick K T Law
    Department of Physiology, Emory University, Atlanta, USA
    BMC Neurosci 5:1. 2004
    ..In the present study, we describe the molecular mechanisms by which TGF-beta1 regulates Ant1 gene expression in cultured primary rodent astrocytes...
  8. pmc Mitochondria, bioenergetics, and the epigenome in eukaryotic and human evolution
    D C Wallace
    ORU for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697 3940, USA
    Cold Spring Harb Symp Quant Biol 74:383-93. 2009
    ..All of these changes result in similar bioenergetic failure and consequently related phenotypes...
  9. pmc The pathophysiology of mitochondrial disease as modeled in the mouse
    Douglas C Wallace
    Organizational Research Unit for Molecular and Mitochondrial Medicine and Genetics, University of California at Irvine, Irvine, California 92697, USA
    Genes Dev 23:1714-36. 2009
    ....
  10. pmc Energetics, epigenetics, mitochondrial genetics
    Douglas C Wallace
    Center for Molecular and Mitochondrial Medicine and Genetics MAMMAG, University of California, Irvine, CA 92697 3940, USA
    Mitochondrion 10:12-31. 2010
    ..This bioenergetic-epigenomic hypothesis has broad implications for the etiology, pathophysiology, and treatment of a wide range of common diseases...
  11. pmc Mitochondrial energetics and therapeutics
    Douglas C Wallace
    Center for Molecular and Mitochondrial Medicine and Genetics and Departments of Biological Chemistry, Ecology and Evolutionary Biology, and Pediatrics, University of California at Irvine, Irvine, California 92697 3940, USA
    Annu Rev Pathol 5:297-348. 2010
    ....
  12. ncbi Why do we still have a maternally inherited mitochondrial DNA? Insights from evolutionary medicine
    Douglas C Wallace
    Center for Molecular and Mitochondrial Medicine and Genetics, Department of Biological Chemistry, University of California, Irvine, California 92697 3940, USA
    Annu Rev Biochem 76:781-821. 2007
    ..Human mtDNA analysis has revealed these genes frequently contain region-specific adaptive polymorphisms. Therefore, the mtDNA with its energy controlling genes may have been retained to permit rapid adaptation to new environments...
  13. ncbi Mitochondrial DNA mutations in disease and aging
    Douglas C Wallace
    ORU for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA, USA
    Environ Mol Mutagen 51:440-50. 2010
    ..This unique genetic system provides a flexible method for generating genetic variation in cellular and organismal energetics that permits species to adapt to alterations in their regional energetic environment...
  14. pmc The epigenome and the mitochondrion: bioenergetics and the environment [corrected]
    Douglas C Wallace
    Center for Mitochondrial and Epigenomic Medicine, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Genes Dev 24:1571-3. 2010
    ..Yoon and colleagues go on to validate their observations by extensively documenting the role of Wnt signaling in the regulation of mitochondrial function...
  15. pmc A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease
    Prasanth Potluri
    Center for Molecular and Mitochondrial Medicine and Genetics MAMMAG, University of California, 2034 Hewitt Hall, Irvine, CA 92697 3940, USA
    Mol Genet Metab 96:189-95. 2009
    ..Therefore, we hypothesize that the novel G32R mutation in NDUFA1 is causing complex I deficiency either by itself or in synergy with additional mtDNA variants...
  16. ncbi The mitochondrial genome in human adaptive radiation and disease: on the road to therapeutics and performance enhancement
    Douglas C Wallace
    Center for Molecular and Mitochondrial Medicine and Genetics, Department of Ecology and Evolutionary Biology, University of California, Irvine, Irvine, CA 92697 3940, USA
    Gene 354:169-80. 2005
    ..These therapeutic approaches might also be used to enhance performance, but we must be careful that catering to short term individual interests might undermine our capacity to adapt and survive...
  17. pmc Role of SUV3 helicase in maintaining mitochondrial homeostasis in human cells
    Lily Khidr
    Department of Biological Chemistry, School of Medicine, University of California, Irvine, California 92697, USA
    J Biol Chem 283:27064-73. 2008
    ..Thus, our results suggest that SUV3 is essential for maintaining proper mitochondrial function, likely through a conserved role in mitochondrial RNA regulation...
  18. ncbi Life extension through neurofibromin mitochondrial regulation and antioxidant therapy for neurofibromatosis-1 in Drosophila melanogaster
    James Jiayuan Tong
    Center for Molecular and Mitochondrial Medicine and Genetics with Department of Biological Chemistry, Ecology and Evolutionary Biology, University of California, Irvine, California 92697, USA
    Nat Genet 39:476-85. 2007
    ..Thus, neurofibromin regulates longevity and stress resistance through cAMP regulation of mitochondrial respiration and ROS production, and NF1 may be treatable using catalytic antioxidants...
  19. ncbi Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes
    Vincent Procaccio
    Center for Molecular and Mitochondrial Medicine and Genetics, Department of Pediatrics, University of California, Irvine, California 92697, USA
    Mol Diagn Ther 10:381-9. 2006
    ..The proportions of mutant mitochondrial DNA (mtDNA) can vary between tissues and are usually significantly higher in muscle than in blood, but muscle biopsies from patients with diabetes are rarely available...
  20. pmc Association between mitochondrial DNA variations and Alzheimer's disease in the ADNI cohort
    Anita Lakatos
    Department of Psychiatry and Human Behavior, University of California, Irvine, CA 92617, USA
    Neurobiol Aging 31:1355-63. 2010
    ..Our results indicate that the mitochondrial haplogroup UK may confer genetic susceptibility to AD independently of the apolipoprotein E4 (APOE4) allele...
  21. ncbi Characterization of retinal and blood mitochondrial DNA from age-related macular degeneration patients
    M Cristina Kenney
    Department of Ophthalmology, University of California, Irvine, Irvine, California, USA
    Invest Ophthalmol Vis Sci 51:4289-97. 2010
    ..To determine mitochondrial (mt)DNA variants in AMD and age-matched normal retinas...
  22. pmc Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
    Vincent Procaccio
    Center for Molecular and Mitochondrial Medicine and Genetics MAMMAG, University of California, Irvine 92697 3940, USA
    Neurology 62:1899-901. 2004
    ..Western blot analysis revealed a deficiency in the NDUFS8 polypeptide, but also reductions in other nuclear subunits of complex I, suggesting that this subunit is essential for either the assembly or stability of complex I...
  23. pmc Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny
    Michael V Zaragoza
    Center for Mitochondrial and Molecular Medicine and Genetics, University of California, Irvine, CA 92697, USA
    Eur J Hum Genet 19:200-7. 2011
    ....
  24. pmc MITOMAP: a human mitochondrial genome database--2004 update
    Marty C Brandon
    Department of Information and Computer Science, University of California, Irvine, CA 92697, USA
    Nucleic Acids Res 33:D611-3. 2005
    ..System administrative changes have been made to improve security and efficiency, and to make MITOMAP compatible with a new automatic mtDNA sequence analyzer known as Mitomaster...
  25. ncbi Adaptive selection of mitochondrial complex I subunits during primate radiation
    Dan Mishmar
    The Center for Molecular and Mitochondrial Medicine and Genetics, Hewitt Hall, room 2014, University of California, Irvine, Irvine, CA 92697 3940, USA
    Gene 378:11-8. 2006
    ..Changes in the nDNA NDUFC2 cysteine 39 were found to correlate with those in the mtDNA ND5 cysteine 330. Therefore, adaptive selection has influenced some nDNA complex I genes and nDNA and mtDNA complex I genes may have co-evolved...
  26. ncbi MITOCHIP assessment of differential gene expression in the skeletal muscle of Ant1 knockout mice: coordinate regulation of OXPHOS, antioxidant, and apoptotic genes
    Vaidya Subramaniam
    Center of Molecular and Mitochondrial Medicine and Genetics MAMMAG and Department of Biological Chemistry, University of California Irvine, 2010 Hewitt Hall, Irvine, CA 92697, USA
    Biochim Biophys Acta 1777:666-75. 2008
    ..Therefore, the Ant1-/- mouse skeletal muscle demonstrates that energy metabolism, antioxidant defenses, and apoptosis form an integrated metabolic network...
  27. pmc Mitochondria as chi
    Douglas C Wallace
    Center for Molecular and Mitochondrial Medicine and Genetics, Department of Ecology and Evolutionary Biology, University of California, Irvine, California 92697 3940, USA
    Genetics 179:727-35. 2008
  28. pmc Natural selection shaped regional mtDNA variation in humans
    Dan Mishmar
    Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, 92697 3940, USA
    Proc Natl Acad Sci U S A 100:171-6. 2003
    ..From these analyses we conclude that selection may have played a role in shaping human regional mtDNA variation and that one of the selective influences was climate...
  29. pmc Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication
    Pinar E Coskun
    Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697 3940, USA
    Proc Natl Acad Sci U S A 101:10726-31. 2004
    ..Because reduced ND6 mRNA and mtDNA copy numbers would reduce brain oxidative phosphorylation, these CR mutations could account for some of the mitochondrial defects observed in AD...
  30. ncbi Mitochondrial DNA-like sequences in the nucleus (NUMTs): insights into our African origins and the mechanism of foreign DNA integration
    Dan Mishmar
    The Center of Molecular and Mitochondrial Genetics and Medicine MAMMAG, University of California, Irvine 92597 3940, USA
    Hum Mutat 23:125-33. 2004
    ..Finally, NUMTs appear to preferentially integrate into DNA with different GC content than the surrounding chromosomal band. Our results suggest that chromosomal structure might influence integration of NUMTs...
  31. pmc Colloquium paper: bioenergetics, the origins of complexity, and the ascent of man
    Douglas C Wallace
    Organized Research Unit for Molecular and Mitochondrial Medicine and Genetics and Departments of Ecology and Evolutionary Biology, Biological Chemistry, and Pediatrics, University of California, Irvine, CA 92697 3940, USA
    Proc Natl Acad Sci U S A 107:8947-53. 2010
    ..5 billion years of information generation by energy flow, accumulated and preserved in DNA and edited by natural selection...
  32. pmc Systemic mitochondrial dysfunction and the etiology of Alzheimer's disease and down syndrome dementia
    Pinar E Coskun
    Mitochondrial and Molecular Medicine and Genetics, University of California Irvine, Irvine, CA, USA
    J Alzheimers Dis 20:S293-310. 2010
    ..Therefore, mtDNA alterations may be responsible for both age-related dementia and the associated neuropathological changes observed in AD and DSAD...
  33. ncbi Accumulation of mitochondrial DNA damage in keratoconus corneas
    Shari R Atilano
    Department of Ophthalmology, University of California Irvine Medical Center, Irvine, California, USA
    Invest Ophthalmol Vis Sci 46:1256-63. 2005
    ..To determine whether keratoconus (KC) corneas have more mitochondrial (mt)DNA damage than do normal corneas...
  34. pmc Data structures and compression algorithms for genomic sequence data
    Marty C Brandon
    Department of Computer Science, UCI, Irvine, CA 92697, USA
    Bioinformatics 25:1731-8. 2009
    ..Here, we develop data structures and algorithms for the efficient storage of genomic and other sequence data that may also facilitate querying and protecting the data...
  35. doi Hydrogen peroxide causes mitochondrial DNA damage in corneal epithelial cells
    Shari R Atilano
    Department of Ophthalmology, University of California, Irvine Medical Center, Irvine, CA 92868, USA
    Cornea 28:426-33. 2009
    ..In addition, we compared the integrity of mtDNA found in epithelial cells isolated from keratoconus (KC) and normal (NL) corneas...
  36. pmc Control region mtDNA variants: longevity, climatic adaptation, and a forensic conundrum
    Pinar E Coskun
    Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92692 3940, USA
    Proc Natl Acad Sci U S A 100:2174-6. 2003
  37. ncbi Molecular research technologies in mitochondrial diseases: the microarray approach
    Marco Crimi
    Center for Molecular and Mitochondrial Medicine and Genetics, Department of Biological Chemistry, University of California, Irvine, California 92697 3940, USA
    IUBMB Life 57:811-8. 2005
    ..Recently, these technologies have been applied to mitochondrial disease patient tissues and the presence of coordinate changes in mitochondrial gene expression confirmed...
  38. pmc Adenine nucleotide translocator 1 deficiency increases resistance of mouse brain and neurons to excitotoxic insults
    Jaewon Lee
    Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697 3940, USA
    Biochim Biophys Acta 1787:364-70. 2009
    ..Hence, Ant1-deficiency may protect the brain from excitotoxicity by desensitizing the mtPTP and by blocking the pro-apoptotic induction of Ant1 by stress...
  39. doi MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences
    Marty C Brandon
    Department of Information and Computer Science, University of California, Irvine, Irvine, California 92697 3940, USA
    Hum Mutat 30:1-6. 2009
    ..This system should be beneficial for mtDNA analyses of biomedical physicians and investigators, population biologists and forensic scientists. MITOMASTER can be accessed at http://mammag.web.uci.edu/twiki/bin/view/Mitomaster...
  40. ncbi Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA
    Eduardo Ruiz-Pesini
    Center for Molecular and Mitochondrial Medicine and Genetics, Department of Ecology and Evolutionary Biology, University of California, Irvine, Irvine, California 92697 3940, USA
    Hum Mutat 27:1072-81. 2006
    ..Therefore, a significant portion of ancient tRNA and rRNA polymorphisms appear to have been adaptive, and these are affecting human health today...
  41. ncbi Extension of murine life span by overexpression of catalase targeted to mitochondria
    Samuel E Schriner
    Department of Genome Sciences, University of Washington, Seattle, WA 91895, USA
    Science 308:1909-11. 2005
    ..These results support the free radical theory of aging and reinforce the importance of mitochondria as a source of these radicals...
  42. ncbi PNA-mediated PCR clamping. Applications and methods
    Deborah G Murdock
    Geriatric Research Education and Clinical Center, Department of Veteran Affairs Medical Center, Departments of Medicine and Pharmacology, Case Western Reserve University, Cleveland, OH, USA
    Methods Mol Biol 208:145-64. 2002
  43. ncbi Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy
    Michael D Brown
    Division of Basic Medical Sciences, Mercer University School of Medicine, Macon, Georgia 31207, USA
    Mov Disord 19:235-7. 2004
    ..Hence, it is unlikely that a mtDNA mutation accounts for the phenotype in this family...
  44. pmc mtDNA mutations increase tumorigenicity in prostate cancer
    John A Petros
    Department of Urology, Emory University, 1365A Clifton Road, Atlanta, GA 30322, USA
    Proc Natl Acad Sci U S A 102:719-24. 2005
    ..The mutant tumors also generated significantly more ROS. Therefore, mtDNA mutations do play an important role in the etiology of prostate cancer...
  45. pmc Analysis of mitochondrial DNA diversity in the aleuts of the commander islands and its implications for the genetic history of beringia
    Olga A Derbeneva
    Laboratory of Human Molecular Genetics, Institute of Cytology and Genetics, Siberian Division, Russian Academy of Sciences, 10 Lavrent ev Avenue, Novosibirsk 630090, Russia
    Am J Hum Genet 71:415-21. 2002
    ....
  46. ncbi Elevated male European and female African contributions to the genomes of African American individuals
    Joanne M Lind
    Laboratory of Genomic Diversity, NCI Frederick, Frederick, MD, USA
    Hum Genet 120:713-22. 2007
    ..mtDNA) to the genomes of African American individuals meaning that admixture-based gene discovery will have the most power for the autosomes and will be more limited for X chromosome analysis...
  47. pmc The mitochondrial theory of aging and its relationship to reactive oxygen species damage and somatic mtDNA mutations
    Lawrence A Loeb
    Department of Pathology, University of Washington, Seattle, WA 98195, USA
    Proc Natl Acad Sci U S A 102:18769-70. 2005
  48. pmc Traces of early Eurasians in the Mansi of northwest Siberia revealed by mitochondrial DNA analysis
    Olga A Derbeneva
    Laboratory of Human Molecular Genetics, Institute of Cytology and Genetics, Siberian Division, Russian Academy of Sciences, 10 Lavrent ev Avenue, Novosibirsk 630090, Russia
    Am J Hum Genet 70:1009-14. 2002
    ....
  49. ncbi The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J
    Michael D Brown
    Center for Molecular Medicine, Emory University School of Medicine, 420B Dental Building, 1462 Clifton Road NE, Atlanta, GA 30322, USA
    Hum Genet 110:130-8. 2002
    ..Thus, the 10663C mutation appears to be a new primary LHON mutation that is pathogenic when co-occurring with haplogroup J. These results strongly support a role for haplogroup J in the expression of certain LHON mutations...
  50. pmc A back migration from Asia to sub-Saharan Africa is supported by high-resolution analysis of human Y-chromosome haplotypes
    Fulvio Cruciani
    Dipartimenti di Genetica e Biologia Molecolare, Universita La Sapienza, Rome, Italy
    Am J Hum Genet 70:1197-214. 2002
    ..Haplogroup IX Y chromosomes appear to have been involved in such a migration, the traces of which can now be observed mostly in northern Cameroon...
  51. ncbi Mitochondrial DNA diversity in Southeast Asian populations
    Theodore G Schurr
    Department of Anthropology, University of Pennsylvania, Philadelphia 19104 6398, USA
    Hum Biol 74:431-52. 2002
    ..Our findings reveal broad patterns of mtDNA haplogroup distribution in Southeast Asia that may reflect different population expansion events in this region over the past 50,000-5,000 years...
  52. pmc Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia
    Marla Gearing
    Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA, USA
    Ann Neurol 52:465-76. 2002
    ..Thus, our findings may shed light on a novel neuropathological change associated with dystonia that may represent a new degenerative mechanism involving actin, a ubiquitous constituent of the cytoskeletal system...
  53. ncbi Animal models for mitochondrial disease
    Douglas C Wallace
    Center for Molecular Medicine, Emory University School of Medicine, Atlanta, GA, USA
    Methods Mol Biol 197:3-54. 2002
    ..These animal studies confirm that alterations in mitochondrial energy generation, ROS production, and apoptosis can all contribute to the pathophysiology of mitochondrial disease...
  54. ncbi The eyes of mito-mouse: mouse models of mitochondrial disease
    Valerie Biousse
    Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia, USA
    J Neuroophthalmol 22:279-85. 2002
    ..In this article, we describe the currently available mouse models for mitochondrial diseases with special emphasis on their ocular phenotype. These mouse models demonstrate multiple and varied ophthalmologic manifestations...
  55. pmc ARL2 and BART enter mitochondria and bind the adenine nucleotide transporter
    J Daniel Sharer
    Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA
    Mol Biol Cell 13:71-83. 2002
    ..We conclude that the amount of ARL2 in mitochondria is subject to regulation via an ANT1-sensitive pathway in muscle tissues...
  56. pmc Increased adenine nucleotide translocator 1 in reactive astrocytes facilitates glutamate transport
    Charles R Buck
    Oridis Biomed, Elisabethstrasse 84, A 8010, Graz, Austria
    Exp Neurol 181:149-58. 2003
    ..Thus, the astrocytic response to CNS injury includes an apparent increase in energy mobilization capacity by Ant1 that contributes to neuroprotective, energy-dependent glutamate uptake...
  57. ncbi Association of mitochondrial SOD deficiency with salt-sensitive hypertension and accelerated renal senescence
    Bernardo Rodriguez-Iturbe
    Renal Service and Laboratory, Instituto de Investigaciones Biomédicas Fundacite Zulia, Hospital Universitario, Universidad del Zulia, Maracaibo, Venezuela
    J Appl Physiol (1985) 102:255-60. 2007
    ..These findings are consistent with the pattern described in numerous other models of salt-sensitive hypertension and resemble that commonly seen in elderly humans...
  58. ncbi Eliminating the Ant1 isoform produces a mouse with CPEO pathology but normal ocular motility
    Hang Yin
    Atlanta VA Medical Center, Decatur, Georgia 30033, USA
    Invest Ophthalmol Vis Sci 46:4555-62. 2005
    ..Because the extraocular muscles (EOM) are preferentially affected in human CPEO, the objective of this study was to determine whether Ant1-/- mice also exhibit an EOM mitochondrial myopathy...
  59. pmc The basal proton conductance of mitochondria depends on adenine nucleotide translocase content
    Martin D Brand
    Medical Research Council Dunn Human Nutrition Unit, Hills Road, Cambridge CB2 2XY, UK
    Biochem J 392:353-62. 2005
    ..We conclude that half to two-thirds of the basal proton conductance of mitochondria is catalysed by the adenine nucleotide carrier, independently of its ATP/ADP exchange or fatty-acid-dependent proton-leak functions...
  60. pmc The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment
    Will Yarosh
    Department of Pediatrics, Division of Human Genetics, University of California Irvine, Irvine, California, United States of America
    PLoS Genet 4:e6. 2008
    ..This study provides novel insights into the pathogenesis of optic atrophy and demonstrates the promise of antioxidants as therapeutic agents for this condition...
  61. doi Reversible optic neuropathy with OPA1 exon 5b mutation
    Karen Cornille
    Institut National de la Santé et de la Recherche Médicale U583, Institut des Neurosciences de Montpellier, Université de Montpellier I et II, Montpellier, France
    Ann Neurol 63:667-71. 2008
    ..These results suggest that the clinical spectrum of the OPA1-associated optic neuropathies may be larger than previously described, and that spontaneous recovery may occur in cases harboring an exon 5b mutation...
  62. pmc Mitochondrial genome diversity in arctic Siberians, with particular reference to the evolutionary history of Beringia and Pleistocenic peopling of the Americas
    Natalia V Volodko
    Laboratory of Human Molecular Genetics, Institute of Cytology and Genetics, Siberian Division, Russian Academy of Sciences, Novosibirsk 630090, Russia
    Am J Hum Genet 82:1084-100. 2008
    ....
  63. pmc The dual origin and Siberian affinities of Native American Y chromosomes
    Jeffrey T Lell
    Center for Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA
    Am J Hum Genet 70:192-206. 2002
    ..This migration event contributed to the modern genetic pool of the Na-Dene and Amerinds of North and Central America...
  64. ncbi Profiling genes related to mitochondrial function in mice treated with N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine
    Guangyu Gu
    Division of Neuropathology, Department of Pathology, University of Washington School of Medicine, Box 359660, Harborview Medical Center, Seattle, WA 98104, USA
    Biochem Biophys Res Commun 308:197-205. 2003
    ..None of these six genes are encoded by mitochondrial DNA. The potential significance of these gene alterations in the context of Parkinson's disease is discussed...
  65. pmc Functional estrogen receptors in the mitochondria of breast cancer cells
    Ali Pedram
    Division of Endocrinology, Veterans Affairs Medical Center, Long Beach, Long Beach, CA 90822, USA
    Mol Biol Cell 17:2125-37. 2006
    ..We implicate novel functions of ER in the mitochondria of breast cancer that lead to the survival of the tumor cells...

Research Grants63

  1. MITOCHONDRIAL GENETICS AND AGING
    Douglas Wallace; Fiscal Year: 2005
    ..Changes in mitochondrial gene expression will be assessed using our Emory Mitochondrial Gene Chip (Mitochip), and the effect of over expression of anti-oxidant genes on longevity will be evaluated by aging studies. ..
  2. Mitochondrial Inborn Errors in Metabolism
    Douglas Wallace; Fiscal Year: 2009
    ....
  3. Mitochondrial Inborn Errors in Metabolism
    Douglas Wallace; Fiscal Year: 2009
    ....
  4. A Mitochondrial Etiology of Autism
    Douglas C Wallace; Fiscal Year: 2010
    ..If mitochondrial defects are found, selected patients will be tested using non-invasive biophysical and biochemical tools to determine if they manifest a functional mitochondrial defect. ..
  5. Mitochondrial Diabetes & Manganic Porphyrin Treatment
    Douglas C Wallace; Fiscal Year: 2010
    ..These mice will also be treated with the metalloporphyrinmimetics to determine if these drugs will then delay the development of the symptoms and the accumulation of the somatic mtDNA mutations. ..
  6. Mitochondrial Inborn Errors in Metabolism
    Douglas C Wallace; Fiscal Year: 2010
    ....
  7. Adaptive Physiology of mtDNA Longevity Mutations
    Douglas Wallace; Fiscal Year: 2006
    ..These mice will be bred the progeny tested for their sensitivity to heat and cold, the biochemistry and physiology of their mitochondria, their exercise physiology, and their longevity. [unreadable] [unreadable]..
  8. Mitochondrial Diabetes & Manganic Porphyrin Treatment
    Douglas Wallace; Fiscal Year: 2007
    ..These mice will also be treated with the metalloporphyrin mimetics to determine if these drugs will then delay the development of the symptoms and the accumulation of the somatic mtDNA mutations. [unreadable] [unreadable]..
  9. ANT Defects in Neurodegenerative Diseases
    Douglas Wallace; Fiscal Year: 2001
    ..These studies, upon completion, will provide critical new insights into the role of ANTs in mitochondrial function and neurodegenerative diseases. ..
  10. Mitochondrial Inborn Errors in Metabolism
    Douglas Wallace; Fiscal Year: 2008
    ....
  11. ETHANOL & AIDS CARDIOMYOPATHY--MITOCHONDRIAL CONNECTION
    Douglas Wallace; Fiscal Year: 2000
    ..If the GPx1 -/- animals have an increased incidence of myocarditis, then this will indicate that cytosolic oxidative stress is important in induced cardiomyopathy. ..
  12. Mitochondrial Diabetes & Manganic Porphyrin Treatment
    Douglas Wallace; Fiscal Year: 2009
    ..These mice will also be treated with the metalloporphyrinmimetics to determine if these drugs will then delay the development of the symptoms and the accumulation of the somatic mtDNA mutations. ..
  13. ETHANOL & AIDS CARDIOMYOPATHY--MITOCHONDRIAL CONNECTION
    Douglas Wallace; Fiscal Year: 2002
    ..If the GPx1 -/- animals have an increased incidence of myocarditis, then this will indicate that cytosolic oxidative stress is important in induced cardiomyopathy. ..
  14. MITOCHONDRIAL GENETICS AND AGING
    Douglas Wallace; Fiscal Year: 2002
    ..Changes in mitochondrial gene expression will be assessed using our Emory Mitochondrial Gene Chip (Mitochip), and the effect of over expression of anti-oxidant genes on longevity will be evaluated by aging studies. ..
  15. MITOCHONDRIAL INBORN ERRORS OF METABOLISM
    Douglas Wallace; Fiscal Year: 1993
    ..These studies should generate new molecular diagnostic tests for mitochondrial diseases, lead to more effective metabolic therapy and provide more accurate prognosis of the disease course...
  16. MITOCHONDRIAL INBORN ERRORS OF METABOLISM
    Douglas Wallace; Fiscal Year: 2000
    ..Finally, mice prone to optic atrophy and basal ganglia degeneration will be treated with vasodilators and antioxidants plus NMDA receptor and antagonists, to determine if these therapies can prevent symptoms. ..
  17. MITOCHONDRIAL INBORN ERRORS OF METABOLISM
    Douglas Wallace; Fiscal Year: 1991
    ..These studies should generate new molecular diagnostic tests for mitochondrial diseases, lead to more effective metabolic therapy and provide more accurate prognosis of the disease course...
  18. MITOCHONDRIAL GENETICS AND AGING
    Douglas Wallace; Fiscal Year: 2004
    ..Changes in mitochondrial gene expression will be assessed using our Emory Mitochondrial Gene Chip (Mitochip), and the effect of over expression of anti-oxidant genes on longevity will be evaluated by aging studies. ..
  19. A Mitochondrial Etiology of Autism
    Douglas Wallace; Fiscal Year: 2009
    ..If mitochondrial defects are found, selected patients will be tested using non-invasive biophysical and biochemical tools to determine if they manifest a functional mitochondrial defect. ..
  20. Mitochondrial Inborn Errors in Metabolism
    Douglas Wallace; Fiscal Year: 2004
    ..abstract_text> ..
  21. ANT Defects in Neurodegenerative Diseases
    Douglas Wallace; Fiscal Year: 2003
    ..These studies, upon completion, will provide critical new insights into the role of ANTs in mitochondrial function and neurodegenerative diseases. ..
  22. MITOCHONDRIAL GENETICS AND AGING
    Douglas Wallace; Fiscal Year: 2003
    ..Changes in mitochondrial gene expression will be assessed using our Emory Mitochondrial Gene Chip (Mitochip), and the effect of over expression of anti-oxidant genes on longevity will be evaluated by aging studies. ..
  23. Adaptive Physiology of mtDNA Longevity Mutations
    Douglas Wallace; Fiscal Year: 2004
    ..These mice will be bred the progeny tested for their sensitivity to heat and cold, the biochemistry and physiology of their mitochondria, their exercise physiology, and their longevity. ..
  24. Mitochondrial Inborn Errors in Metabolism
    Douglas Wallace; Fiscal Year: 2005
    ..abstract_text> ..
  25. ANT Defects in Neurodegenerative Diseases
    Douglas Wallace; Fiscal Year: 2005
    ..These studies, upon completion, will provide critical new insights into the role of ANTs in mitochondrial function and neurodegenerative diseases. ..
  26. Mitochondrial Inborn Errors in Metabolism
    Douglas Wallace; Fiscal Year: 2006
    ..abstract_text> ..
  27. Mitochondrial Inborn Errors in Metabolism
    Douglas Wallace; Fiscal Year: 2007
    ....
  28. ANT Defects in Neurodegenerative Diseases
    Douglas Wallace; Fiscal Year: 2002
    ..These studies, upon completion, will provide critical new insights into the role of ANTs in mitochondrial function and neurodegenerative diseases. ..
  29. MITOCHONDRIAL GENETICS AND AGING
    Douglas Wallace; Fiscal Year: 1999
    ..Finally, the investigator proposes to prepare transgenic mice with increased mitochondrial and cytosolic oxygen radical detoxification systems to determine if mitochondrial damage is decreased and longevity increased. ..
  30. ETHANOL & AIDS CARDIOMYOPATHY--MITOCHONDRIAL CONNECTION
    Douglas Wallace; Fiscal Year: 1999
    ..If the GPx1 -/- animals have an increased incidence of myocarditis, then this will indicate that cytosolic oxidative stress is important in induced cardiomyopathy. ..
  31. MITOCHONDRIAL INBORN ERRORS OF METABOLISM
    Douglas Wallace; Fiscal Year: 1999
    ..Finally, mice prone to optic atrophy and basal ganglia degeneration will be treated with vasodilators and antioxidants plus NMDA receptor and antagonists, to determine if these therapies can prevent symptoms. ..
  32. MITOCHONDRIAL GENETICS AND AGING
    Douglas Wallace; Fiscal Year: 2001
    ..Changes in mitochondrial gene expression will be assessed using our Emory Mitochondrial Gene Chip (Mitochip), and the effect of over expression of anti-oxidant genes on longevity will be evaluated by aging studies. ..
  33. ANT Defects in Neurodegenerative Diseases
    Douglas Wallace; Fiscal Year: 2004
    ..These studies, upon completion, will provide critical new insights into the role of ANTs in mitochondrial function and neurodegenerative diseases. ..
  34. Mitochondrial Diabetes & Manganic Porphyrin Treatment
    Douglas Wallace; Fiscal Year: 2008
    ..These mice will also be treated with the metalloporphyrinmimetics to determine if these drugs will then delay the development of the symptoms and the accumulation of the somatic mtDNA mutations. ..
  35. Adaptive Physiology of mtDNA Longevity Mutations
    Douglas Wallace; Fiscal Year: 2008
    ..These mice will be bred the progeny tested for their sensitivity to heat and cold, the biochemistry and physiology of their mitochondria, their exercise physiology, and their longevity. [unreadable] [unreadable]..
  36. MITOCHONDRIAL INBORN ERRORS OF METABOLISM
    Douglas Wallace; Fiscal Year: 1990
    ..These studies should generate new molecular diagnostic tests for mitochondrial diseases, lead to more effective metabolic therapy and provide more accurate prognosis of the disease course...
  37. Adaptive Physiology of mtDNA Longevity Mutations
    Douglas Wallace; Fiscal Year: 2007
    ..These mice will be bred the progeny tested for their sensitivity to heat and cold, the biochemistry and physiology of their mitochondria, their exercise physiology, and their longevity. [unreadable] [unreadable]..
  38. ETHANOL & AIDS CARDIOMYOPATHY--MITOCHONDRIAL CONNECTION
    Douglas Wallace; Fiscal Year: 2003
    ..If the GPx1 -/- animals have an increased incidence of myocarditis, then this will indicate that cytosolic oxidative stress is important in induced cardiomyopathy. ..
  39. Mitochondrial Inborn Errors in Metabolism
    Douglas Wallace; Fiscal Year: 2002
    ..abstract_text> ..
  40. MITOCHONDRIAL INBORN ERRORS OF METABOLISM
    Douglas Wallace; Fiscal Year: 2001
    ..Finally, mice prone to optic atrophy and basal ganglia degeneration will be treated with vasodilators and antioxidants plus NMDA receptor and antagonists, to determine if these therapies can prevent symptoms. ..
  41. ETHANOL & AIDS CARDIOMYOPATHY--MITOCHONDRIAL CONNECTION
    Douglas Wallace; Fiscal Year: 2001
    ..If the GPx1 -/- animals have an increased incidence of myocarditis, then this will indicate that cytosolic oxidative stress is important in induced cardiomyopathy. ..
  42. MITOCHONDRIAL GENETICS AND AGING
    Douglas Wallace; Fiscal Year: 2000
    ..Finally, the investigator proposes to prepare transgenic mice with increased mitochondrial and cytosolic oxygen radical detoxification systems to determine if mitochondrial damage is decreased and longevity increased. ..
  43. MITOCHONDRIAL INBORN ERRORS OF METABOLISM
    Douglas Wallace; Fiscal Year: 2000
    ..Finally, mice prone to optic atrophy and basal ganglia degeneration will be treated with vasodilators and antioxidants plus NMDA receptor and antagonists, to determine if these therapies can prevent symptoms. ..
  44. Adaptive Physiology of mtDNA Longevity Mutations
    Douglas Wallace; Fiscal Year: 2005
    ..These mice will be bred the progeny tested for their sensitivity to heat and cold, the biochemistry and physiology of their mitochondria, their exercise physiology, and their longevity. ..
  45. MITOCHONDRIAL INBORN ERRORS OF METABOLISM
    Douglas Wallace; Fiscal Year: 1992
    ..These studies should generate new molecular diagnostic tests for mitochondrial diseases, lead to more effective metabolic therapy and provide more accurate prognosis of the disease course...
  46. Mitochondrial Diabetes & Manganic Porphyrin Treatment
    Douglas Wallace; Fiscal Year: 2006
    ..These mice will also be treated with the metalloporphyrin mimetics to determine if these drugs will then delay the development of the symptoms and the accumulation of the somatic mtDNA mutations. [unreadable] [unreadable]..
  47. Mitochondrial Inborn Errors in Metabolism
    Douglas Wallace; Fiscal Year: 2003
    ..abstract_text> ..