Lee Jun C Wong

Summary

Affiliation: Baylor College of Medicine
Country: USA

Publications

  1. ncbi request reprint Exercise intolerance associated with a novel 8300T > C mutation in mitochondrial transfer RNAlys
    Michael J Gambello
    Department of Pediatrics, Division of Medical Genetics, University of Texas Health Science Center, Houston, Texas, USA
    Muscle Nerve 34:437-43. 2006
  2. pmc Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes
    Bekim Sadikovic
    Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS ONE 5:e15687. 2010
  3. pmc Mitochondrial DNA content varies with pathological characteristics of breast cancer
    Ren Kui Bai
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
    J Oncol 2011:496189. 2011
  4. doi request reprint Next generation molecular diagnosis of mitochondrial disorders
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
    Mitochondrion 13:379-87. 2013
  5. pmc Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratories
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
    Neurotherapeutics 10:262-72. 2013
  6. doi request reprint Mitochondrial syndromes with leukoencephalopathies
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX 77030, USA
    Semin Neurol 32:55-61. 2012
  7. pmc GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment
    Pu Dai
    Department of Otolaryngology and Genetic Testing Center for Deafness, Chinese PLA General Hospital, Beijing, PR China
    J Transl Med 7:26. 2009
  8. pmc Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis
    Pu Dai
    Department of Otolaryngology and Genetic Testing Center for Deafness, Chinese PLA General Hospital, Beijing, PR China
    J Transl Med 6:74. 2008
  9. ncbi request reprint Molecular genetics of mitochondrial disorders
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Dev Disabil Res Rev 16:154-62. 2010
  10. ncbi request reprint Current molecular diagnostic algorithm for mitochondrial disorders
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Genet Metab 100:111-7. 2010

Research Grants

Collaborators

Detail Information

Publications84

  1. ncbi request reprint Exercise intolerance associated with a novel 8300T > C mutation in mitochondrial transfer RNAlys
    Michael J Gambello
    Department of Pediatrics, Division of Medical Genetics, University of Texas Health Science Center, Houston, Texas, USA
    Muscle Nerve 34:437-43. 2006
    ..These data suggest that this novel mutation is yet another mtDNA mutation associated with muscle disease and should be considered in patients with similar symptoms...
  2. pmc Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes
    Bekim Sadikovic
    Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS ONE 5:e15687. 2010
    ..Decreased levels of sequence homology and increased levels of deletion mutant heteroplasmy appear to correlate with earlier onset and more severe disease with multisystem involvement...
  3. pmc Mitochondrial DNA content varies with pathological characteristics of breast cancer
    Ren Kui Bai
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
    J Oncol 2011:496189. 2011
    ..mtDNA content in tumor tissues change with tumor size, grade, and ER/PR status; significant deviation from the median level of mtDNA content is associated with poor survival...
  4. doi request reprint Next generation molecular diagnosis of mitochondrial disorders
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
    Mitochondrion 13:379-87. 2013
    ..This article reviews the clinical utility of next generation sequencing for the molecular diagnoses of complex dual genome mitochondrial disorders...
  5. pmc Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratories
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
    Neurotherapeutics 10:262-72. 2013
    ....
  6. doi request reprint Mitochondrial syndromes with leukoencephalopathies
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX 77030, USA
    Semin Neurol 32:55-61. 2012
    ..A definite diagnosis may be achieved by molecular analysis of candidate genes based on the biochemical, clinical, and imaging results...
  7. pmc GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment
    Pu Dai
    Department of Otolaryngology and Genetic Testing Center for Deafness, Chinese PLA General Hospital, Beijing, PR China
    J Transl Med 7:26. 2009
    ..Mutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this gene vary among different ethnic groups...
  8. pmc Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis
    Pu Dai
    Department of Otolaryngology and Genetic Testing Center for Deafness, Chinese PLA General Hospital, Beijing, PR China
    J Transl Med 6:74. 2008
    ..Study of GJB2 gene revealed that 30.4% of the patients with hearing loss in Inner Mongolia carried GJB2 mutations. The SLC26A4 gene mutations and relevant phenotype are analyzed in this study...
  9. ncbi request reprint Molecular genetics of mitochondrial disorders
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Dev Disabil Res Rev 16:154-62. 2010
    ....
  10. ncbi request reprint Current molecular diagnostic algorithm for mitochondrial disorders
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Genet Metab 100:111-7. 2010
    ..The ever-expanding list of known disease-causing genes will undoubtedly improve diagnostic accuracy and genetic counseling...
  11. ncbi request reprint Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hepatology 46:1218-27. 2007
    ..We report 4 cases from 3 ethnically diverse families with MPV17 mutations. Importantly, 2 of these cases presented with isolated liver failure during infancy without notable neurologic dysfunction...
  12. ncbi request reprint Pathogenic mitochondrial DNA mutations in protein-coding genes
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, Texas 77030, USA
    Muscle Nerve 36:279-93. 2007
    ....
  13. pmc Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mutat 29:E150-72. 2008
    ....
  14. ncbi request reprint Diagnostic challenges of mitochondrial DNA disorders
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
    Mitochondrion 7:45-52. 2007
    ....
  15. doi request reprint Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions
    Lee Jun C Wong
    Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Clin Chem 54:1141-8. 2008
    ..Oligonucleotide array-based comparative genomic hybridization (CGH) is currently in clinical use to detect major changes in chromosomal copy number...
  16. pmc AIB1 gene amplification and the instability of polyQ encoding sequence in breast cancer cell lines
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    BMC Cancer 6:111. 2006
    ..The purpose of this study is to investigate the sequence variation of poly Q encoding region in breast cancer cell lines at single molecule level, and to determine if the sequence variation is related to AIB1 gene amplification...
  17. doi request reprint Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects
    Sha Tang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 34:882-93. 2013
    ..Additionally, NGS provides accurate, sensitive heteroplasmy measurement, and the ability to map deletion breakpoints. A new era of more efficient molecular diagnosis of mtDNA mutations has arrived...
  18. doi request reprint Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum
    Sha Tang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Med Genet 48:669-81. 2011
    ..Sequence analysis of the POLG gene should be considered as a part of routine screening for mitochondrial disorders, even in the absence of apparent mitochondrial DNA abnormalities...
  19. doi request reprint MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations
    Ayman W El-Hattab
    Department of Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX 77030, USA
    Mol Genet Metab 99:300-8. 2010
    ..Localizing the mutations within the predicted MPV17 protein structure reveals clustering of mutations in the region of the putative protein kinase C phosphorylation site...
  20. pmc Crosstalk from non-cancerous mitochondria can inhibit tumor properties of metastatic cells by suppressing oncogenic pathways
    Benny Abraham Kaipparettu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    PLoS ONE 8:e61747. 2013
    ..These results suggest the critical oncogenic regulation by mitochondrial-nuclear cross talk and highlights rectifying mitochondrial functional properties as a promising target in cancer therapy...
  21. ncbi request reprint Mitochondrial genetic background modifies breast cancer risk
    Ren Kui Bai
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Cancer Res 67:4687-94. 2007
    ..37; 95% CI, 0.19-0.73; P = 0.0023, adjusted P = 0.03). Our results suggest that mitochondrial genetic background plays a role in modifying an individual's risk to breast cancer...
  22. doi request reprint Diagnostic approaches to apparent homozygosity
    Megan L Landsverk
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Genet Med 14:877-82. 2012
    ..We sought to investigate the frequency at which apparently homozygous mutations detected by Sanger sequencing in our laboratory appeared homozygous due to other molecular etiologies...
  23. ncbi request reprint An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory's experience
    Jing Wang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Genet Med 14:620-6. 2012
    ..Clinicians are increasingly interested in requesting mtDNA testing. However, interpretation of uncharacterized mtDNA variants is a great challenge. We suggest a stepwise interpretation procedure for clinical service...
  24. doi request reprint Quantitative evaluation of the mitochondrial DNA depletion syndrome
    David Dimmock
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Clin Chem 56:1119-27. 2010
    ..In the clinical setting, a simple method to quantify mtDNA depletion would be useful before undertaking gene sequence analysis...
  25. ncbi request reprint Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders
    Hong Cui
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Genet Med 15:388-94. 2013
    ..The objective of this study was to investigate the performance characteristics and to gain new insights into the analysis of the mitochondrial genome...
  26. doi request reprint Utilization of targeted array comparative genomic hybridization, MitoMet, in prenatal diagnosis of metabolic disorders
    Megan L Landsverk
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Genet Metab 103:148-52. 2011
    ..These data highlight the importance of targeted array CGH in patients with suspected metabolic disorders and incomplete or negative sequencing results, as well as its emerging role in prenatal diagnosis...
  27. pmc Mitochondrial dysfunction in human breast cancer cells and their transmitochondrial cybrids
    Yewei Ma
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, Texas 77030, USA
    Biochim Biophys Acta 1797:29-37. 2010
    ..We conclude that altered mitochondria in cancer cells may play a crucial role in tumor development...
  28. ncbi request reprint Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children s Hospital corrected Houston, TX 77030, USA
    AJNR Am J Neuroradiol 26:1675-80. 2005
    ..Here we report the neuroradiologic findings of predominant cerebellar volume loss in children with various mitochondrial disorders...
  29. ncbi request reprint Molecular analysis of mitochondrial DNA point mutations by polymerase chain reaction
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Methods Mol Biol 336:135-43. 2006
    ..The PCR products of a heteroplasmic DNA sample will hybridize to both wild-type and mutant ASO probes. This PCR/ASO method allows the detection of low percentage mutant heteroplasmy...
  30. pmc Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease
    Ren Kui Bai
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
    J Mol Diagn 7:613-22. 2005
    ..The presence of deletion(s) and mtDNA depletion or compensatory over-replication can be determined simultaneously by real-time qPCR...
  31. doi request reprint Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis
    Ganka V Douglas
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    J Hum Genet 56:834-9. 2011
    ....
  32. doi request reprint Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis
    Neil A Hanchard
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX, USA
    Mol Genet Metab 103:262-7. 2011
    ..This report highlights hepatocerebral mtDNA depletion in the differential of neonatal tyrosinemia, advocates considering dGK deficiency in cases of NH, and posits mitochondrial oxidative processes in the pathogenesis of NH...
  33. ncbi request reprint Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Pediatrics 114:925-31. 2004
    ..The aim of this study was to elucidate the frequency of major clinical manifestations in children with mitochondrial disease and establish their clinical course, prognosis, and rates of survival depending on their clinical features...
  34. doi request reprint Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis
    Guo Li Wang
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX 77030, USA
    Mol Genet Metab 103:349-57. 2011
    ..This study underscores the importance of comprehensive molecular analysis, including sequencing and targeted array CGH of the SLC25A20 gene when CACT deficiency is suspected...
  35. ncbi request reprint Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA
    Am J Med Genet A 123:172-8. 2003
    ....
  36. doi request reprint Molecular characterization of CPS1 deletions by array CGH
    Jing Wang
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
    Mol Genet Metab 102:103-6. 2011
    ..These results underscore the importance of analysis of large deletions when only one mutation or no mutations are identified in cases where CPSI deficiency is strongly indicated...
  37. doi request reprint Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes
    A Craig Chinault
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 11:518-26. 2009
    ..We have developed an improved approach for routine analyses of these disorders in a clinical laboratory...
  38. ncbi request reprint Functional effects of cancer mitochondria on energy metabolism and tumorigenesis: utility of transmitochondrial cybrids
    Benny Abraham Kaipparettu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Ann N Y Acad Sci 1201:137-46. 2010
    ..Here we review the accumulating evidence that altered cancer mitochondria affect the respiratory chain function and oncogenic properties in vitro and in vivo using cybrid technologies...
  39. ncbi request reprint Application of next generation sequencing to molecular diagnosis of inherited diseases
    Wei Zhang
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX, 77030, USA
    Top Curr Chem 336:19-45. 2014
    ..We also emphasize the various target gene enrichment methods and their advantages and shortcomings. Obstacles to compliance with regulatory authorities like CLIA/CAP in clinical settings are also briefly discussed. ..
  40. doi request reprint Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene
    Sirisak Chanprasert
    Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Genet Metab 110:153-61. 2013
    ..Clinically, hypotonia and proximal muscle weakness are the major phenotypes present in all subjects. In summary, our study expands the molecular and clinical spectrum associated with TK2 deficiency. ..
  41. ncbi request reprint Real-time quantitative polymerase chain reaction analysis of mitochondrial DNA point mutation
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houson, Texas, USA
    Methods Mol Biol 335:187-200. 2006
    ..In this chapter, we describe the detailed procedures regarding the application of fluorescent probes, and real time quantitative PCR in the molecular diagnosis of mitochondrial DNA disorders...
  42. ncbi request reprint Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 8:641-52. 2006
    ....
  43. ncbi request reprint POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria
    Mir Reza Bekheirnia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Gene 499:209-12. 2012
    ....
  44. doi request reprint Mitochondria of highly metastatic breast cancer cell line MDA-MB-231 exhibits increased autophagic properties
    Yi Fang Tu
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
    Biochim Biophys Acta 1807:1125-32. 2011
    ..These results suggested that mitochondria from highly metastatic breast cancer cell line MDA-MB-231 can promote homeostatic autophagy of cancer through opening low-conductance MPT pores...
  45. pmc Mitochondrial DNA variant interactions modify breast cancer risk
    Daniel Covarrubias
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
    J Hum Genet 53:924-8. 2008
    ....
  46. pmc Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    BMC Pediatr 2:12. 2002
    ..These features have not been identified as the presenting features of mitochondrial cytopathy in the neonatal period...
  47. doi request reprint Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations
    Sha Tang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    J Neurol 259:862-8. 2012
    ..POLG1 mutations may cause MNGIE-like syndrome, but the lack of leukoencephalopathy and the normal plasma thymidine favor POLG1 mutations as responsible molecular defect...
  48. ncbi request reprint Comprehensive one-step molecular analyses of mitochondrial genome by massively parallel sequencing
    Wei Zhang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Clin Chem 58:1322-31. 2012
    ..Current molecular analyses require multiple different and complementary methods for the detection and quantification of mitochondrial DNA (mtDNA) mutations. We developed a novel approach to analyze the mtDNA in 1 step...
  49. doi request reprint SURF1-associated Leigh syndrome: a case series and novel mutations
    Inn Chi Lee
    Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan
    Hum Mutat 33:1192-200. 2012
    ..There is no definite genotype-phenotype correlation; however, frameshift mutations resulting in protein truncation closer to the C-terminus may carry a better prognosis...
  50. pmc Individualizing antimetabolic treatment strategies for head and neck squamous cell carcinoma based on TP53 mutational status
    Vlad C Sandulache
    Bobby R Alford Department of Otolaryngology Head and Neck Surgery, Baylor College of Medicine, Houston, Texas, USA
    Cancer 118:711-21. 2012
    ..In this report, the authors propose a strategy that uses TP53 mutational status to individualize antimetabolic strategies for the potentiation of radiation toxicity in HNSCC cells...
  51. doi request reprint Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation
    Gary Fruhman
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Genet Metab 103:153-60. 2011
    ..This case is unusual for age of onset, gender, associated neurological findings and evolution, further expanding the clinical spectrum associated with primary LHON mtDNA mutations...
  52. ncbi request reprint Human mitochondrial transfer RNAs: role of pathogenic mutation in disease
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Muscle Nerve 37:150-71. 2008
    ..We also provide readers with an overview of a large variety of mechanisms by which mutations may affect the mitochondrial translation machinery and cause disease...
  53. ncbi request reprint First prenatal exclusion of cystic fibrosis in East Asia
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Pediatr Int 49:686-7. 2007
  54. pmc Ablation of steroid receptor coactivator-3 resembles the human CACT metabolic myopathy
    Brian York
    Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA
    Cell Metab 15:752-63. 2012
    ..Moreover, these findings allow us to consider platform coactivators such as the SRCs as potential contributors to syndromes such as CACT deficiency, previously considered as monogenic...
  55. ncbi request reprint Novel heteroplasmic frameshift and missense somatic mitochondrial DNA mutations in oral cancer of betel quid chewers
    Duan Jun Tan
    Department of Oncology, Georgetown University Medical Center, Washington, DC 20057 1477, USA
    Genes Chromosomes Cancer 37:186-94. 2003
    ..More extensive biochemical and molecular studies will be necessary for determining the pathologic effect of these somatic mutations...
  56. ncbi request reprint Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation
    Andrea Gropman
    Neurogenetics Branch, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Med Genet A 124:377-82. 2004
    ..Published 2003 Wiley-Liss, Inc...
  57. ncbi request reprint Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach
    Ren Kui Bai
    Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC, USA
    Clin Chem 50:996-1001. 2004
    ..To correlate disease manifestation with mutation loads, it is necessary to measure the percentage of the A3243G mtDNA mutation...
  58. ncbi request reprint Comprehensive scanning of the entire mitochondrial genome for mutations
    Lee Jun C Wong
    Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA
    Clin Chem 48:1901-12. 2002
    ..We used temporal temperature gradient gel electrophoresis (TTGE) to detect heteroplasmic mutations from homoplasmic variations in the whole mitochondrial genome...
  59. ncbi request reprint Enhanced detection of deleterious mutations by TTGE analysis of mother and child's DNA side by side
    Haeyoung Kwon
    Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA
    Ann N Y Acad Sci 1011:299-303. 2004
    ..Running TTGE side by side with DNAs from mother and the affected child is a novel method to detect deleterious mutations...
  60. ncbi request reprint Intergenerational transmission of pathogenic heteroplasmic mitochondrial DNA
    Lee Jun C Wong
    Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA
    Genet Med 4:78-83. 2002
    ..To study the pattern of intergenerational transmission of pathogenic mitochondrial DNA with heteroplasmic A3243G, G8363A, A8344G, T8993G, and T8993C mutations...
  61. ncbi request reprint Comprehensive scanning of somatic mitochondrial DNA mutations in breast cancer
    Duan Jun Tan
    Department of Oncology, Georgetown University Medical Center, Washington, DC 20007, USA
    Cancer Res 62:972-6. 2002
    ..Twenty-seven somatic mutations were found, and 22 of them occurred in the D loop region. This study represents the most comprehensive mtDNA mutational analysis in breast cancer...
  62. ncbi request reprint Quantitative PCR analysis of mitochondrial DNA content in patients with mitochondrial disease
    Ren Kui Bai
    Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington DC 20007, USA
    Ann N Y Acad Sci 1011:304-9. 2004
    ..Our results demonstrate that real time quantitative PCR is a valuable tool for molecular screening of mitochondrial diseases...
  63. ncbi request reprint Mitochondrial DNA analysis in clinical laboratory diagnostics
    Lee Jun C Wong
    Institute for Molecular and Human Genetics, Georgetown University Medical Center, 3800 Reservoir Road, NW, M4000, Washington, DC 20007, USA
    Clin Chim Acta 354:1-20. 2005
    ..Prenatal diagnosis is problematic in most cases...
  64. ncbi request reprint A mitochondrial DNA mutation in a patient with an extensive family history of Duchenne muscular dystrophy
    Lee Jun C Wong
    Molecular Genetics Laboratory, Institute for Molecular and Human Genetics, Georgetown University Medical Center, M4000, 3800 Reservoir Road NW, Washington, DC 20007, USA
    Muscle Nerve 30:118-22. 2004
    ....
  65. ncbi request reprint Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations
    Margherita Milone
    Department of Neurology, Mayo Clinic, Rochester, MN, USA
    Neuromuscul Disord 18:626-32. 2008
    ..Due to these diagnostic difficulties, POLG-related syndromes are definitively diagnosed based on the presence of deleterious mutations in the POLG gene...
  66. pmc Significance of somatic mutations and content alteration of mitochondrial DNA in esophageal cancer
    Duan Jun Tan
    Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington DC, USA
    BMC Cancer 6:93. 2006
    ..In this study we aim to establish the mutation spectrum and to understand the role of somatic mtDNA mutations in esophageal cancer...
  67. ncbi request reprint Hearing loss in mitochondrial disorders
    Chang Hung Hsu
    Institute for Molecular and Human Genetics, Georgetown University Medical Center, 3800 Reservoir Rd, NW, Washington, DC 20007, USA
    Ann N Y Acad Sci 1042:36-47. 2005
    ..This study revealed that the majority of the mtDNA defects in patients with mitochondrial syndromic hearing loss affect the overall mitochondrial gene expression...
  68. ncbi request reprint Molecular genetics of common mitochondrial DNA disorders
    Lee Jun C Wong
    Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington DC 20007, USA
    Beijing Da Xue Xue Bao 37:26-31. 2005
    ..This review provides overview of current molecular diagnosis of mitochondrial DNA disorders that is useful in patient care and genetic counseling...
  69. ncbi request reprint Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients
    Ozgul M Alper
    Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007 2113, USA
    Hum Mutat 24:353. 2004
    ..The discovery of recurrent rare and novel mutations improves the diagnosis and care of persons with CF and improves our ability to adequately and equitably provide screening and genetic counseling services to non-Caucasians...
  70. ncbi request reprint Comprehensive molecular diagnosis of mitochondrial disorders: qualitative and quantitative approach
    Lee Jun C Wong
    Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA
    Ann N Y Acad Sci 1011:246-58. 2004
    ....
  71. ncbi request reprint Somatic mitochondrial DNA mutations in neurofibromatosis type 1-associated tumors
    Andreas Kurtz
    Massachusetts General Hospital, Harvard Medical School, Charlestown, USA
    Mol Cancer Res 2:433-41. 2004
    ....
  72. ncbi request reprint Detection of CFTR mutations using temporal temperature gradient gel electrophoresis
    Lee Jun C Wong
    Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA
    Electrophoresis 25:2593-601. 2004
    ..Our data demonstrate that screening of the 27 exons and intron/exon junctions of the CFTR gene by TTGE greatly improves the molecular diagnosis of Hispanic CF patients...
  73. ncbi request reprint A cystic fibrosis patient with two novel mutations in mitochondrial DNA: mild disease led to delayed diagnosis of both disorders
    Lee Jun C Wong
    Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA
    Am J Med Genet 113:59-64. 2002
    ..This case underscores the importance of a complete mutational analysis of the entire mitochondrial genome when a patient suspected of mitochondrial disorder is negative for common mtDNA mutations...
  74. ncbi request reprint Detection of mitochondrial DNA mutations using temporal temperature gradient gel electrophoresis
    Lee Jun C Wong
    Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA
    Electrophoresis 25:2602-10. 2004
    ..It also detects heteroplasmic changes in the background of a homoplasmic polymorphism. Overall, TTGE was proven to be a simple, rapid, sensitive, and effective mutation detection method...
  75. ncbi request reprint Design and use of a peptide nucleic acid for detection of the heteroplasmic low-frequency mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) mutation in human mitochondrial DNA
    Diane K Hancock
    Biotechnology Division, National Institute of Standards and Technology, 100 Bureau Drive, Gaithersburg, MD 20899, USA
    Clin Chem 48:2155-63. 2002
    ....
  76. ncbi request reprint Somatic mitochondrial DNA mutations in oral cancer of betel quid chewers
    Duan Jun Tan
    Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA
    Ann N Y Acad Sci 1011:310-6. 2004
    ..The missense and frameshift mutations in the evolutionary conserved regions of the mitochondrial genome may have functional significance in the pathogenesis of oral cancer...
  77. ncbi request reprint Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens
    Chien Chih Wu
    Graduate Institute of Medical Sciences, Taipei Medical University, Taiwan
    Hum Reprod 20:2470-5. 2005
    ..In order to understand the involvement of the CFTR gene in the aetiology of Asian/Taiwanese male infertility, we screened the entirety of the CFTR gene in 36 infertile males with CBAVD...
  78. ncbi request reprint 1154insTC is not a rare CFTR mutation
    Ozgul M Alper
    Am J Med Genet A 120:294-5. 2003
  79. ncbi request reprint Alpers syndrome with prominent white matter changes
    Xinhua Bao
    Department of Pediatrics, Peking University First Hospital, Beijing, China
    Brain Dev 30:295-300. 2008
    ..In addition, there were prominent white matter changes in a series of brain magnetic resonance imaging (MRI) and increased immunological factors in CSF...
  80. ncbi request reprint Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations
    Lee Jun C Wong
    Am J Med Genet A 120:296-8. 2003
  81. ncbi request reprint Detection of mitochondrial DNA mutations in the tumor and cerebrospinal fluid of medulloblastoma patients
    Lee Jun C Wong
    Institute for Molecular and Human Genetics, Georgetown University, Washington, DC, 20007, USA
    Cancer Res 63:3866-71. 2003
    ..Our results demonstrate that mtDNA mutations are frequently found in medulloblastomas. The mtDNA alterations detected in CSF may be used as sensitive markers to monitor disease progression and predict relapse...
  82. ncbi request reprint [Evaluation of inheritable character in essential hypertension through reconstruction of neighbor-joining tree]
    Ling Ling Liu
    The Institute of Geriatric Cardiology, Chinese PLA General Hospital, Beijing 100853, China
    Yi Chuan 26:441-5. 2004
    ..The genotypes of np152C, np182T, np247A, np16187T, np16189C, np16264T, np16270T and np16311C may be potential genetic markers for susceptibility to hypertension...
  83. ncbi request reprint The necessity of complete CFTR mutational analysis of an infertile couple before in vitro fertilization
    Lee Jun C Wong
    Department of Oncology, Molecular Genetics Laboratory, Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA
    Fertil Steril 82:947-9. 2004
    ..To determine the genotype of a triplet resulted from an IVF procedure, with discordant cystic fibrosis (CF) phenotype...
  84. ncbi request reprint Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness
    Annette Feigenbaum
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet A 140:2216-22. 2006
    ..This case emphasizes the importance of pursuing more extensive mutational analysis of mtDNA in the absence of common mtDNA point mutations or large deletions, when there is a high suspicion of a mitochondrial disorder...

Research Grants5

  1. The Role of Mitochondrial DNA Alterations in Cancer
    Lee Jun Wong; Fiscal Year: 2004
    ..Results from this research project will help us understand the functional role of mitochondrial DNA alterations in cancer and identify potential novel targets for more effective therapeutic development. ..
  2. The Role of Mitochondrial DNA Alterations in Cancer
    Lee Jun Wong; Fiscal Year: 2005
    ..Results from this research project will help us understand the functional role of mitochondrial DNA alterations in cancer and identify potential novel targets for more effective therapeutic development. ..
  3. The Role of Mitochondrial DNA Alterations in Cancer
    Lee Jun Wong; Fiscal Year: 2006
    ..Results from this research project will help us understand the functional role of mitochondrial DNA alterations in cancer and identify potential novel targets for more effective therapeutic development. ..
  4. The Role of Mitochondrial DNA Alterations in Cancer
    Lee Jun Wong; Fiscal Year: 2007
    ..Results from this research project will help us understand the functional role of mitochondrial DNA alterations in cancer and identify potential novel targets for more effective therapeutic development. ..