Anu Suomalainen

Summary

Affiliation: University of Helsinki
Country: Finland

Publications

  1. ncbi request reprint FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study
    Anu Suomalainen
    Research Programmes Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland
    Lancet Neurol 10:806-18. 2011
  2. pmc Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice
    Emil Ylikallio
    Biomedicum Helsinki, Research Programme of Molecular Neurology, University of Helsinki, Haartmaninkatu 8, PO Box 63, 00290 Helsinki, Finland
    Nucleic Acids Res 38:8208-18. 2010
  3. doi request reprint Fibroblast growth factor 21: a novel biomarker for human muscle-manifesting mitochondrial disorders
    Anu Suomalainen
    University of Helsinki, Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, Haartmaninkatu 8, Helsinki 00290, Finland
    Expert Opin Med Diagn 7:313-7. 2013
  4. doi request reprint Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy
    Christopher J Carroll
    Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, r C523B, Haartmaninkatu 8, Helsinki 00290, Finland
    J Med Genet 50:151-9. 2013
  5. doi request reprint Biomarkers for mitochondrial respiratory chain disorders
    Anu Suomalainen
    Research Program of Molecular Neurology, Biomedicum Helsinki, r C523B, University of Helsinki, Helsinki, Finland
    J Inherit Metab Dis 34:277-82. 2011
  6. doi request reprint Mitochondrial DNA depletion syndromes--many genes, common mechanisms
    Anu Suomalainen
    Research Program of Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Neuromuscul Disord 20:429-37. 2010
  7. doi request reprint Therapy for mitochondrial disorders: little proof, high research activity, some promise
    Anu Suomalainen
    Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Semin Fetal Neonatal Med 16:236-40. 2011
  8. doi request reprint Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome
    Alexandra Götz
    Research Programme of Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Brain 131:2841-50. 2008
  9. ncbi request reprint Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
    Anna H Hakonen
    Research Program of Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Finland
    Brain 130:3032-40. 2007
  10. pmc A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions
    Henna Tyynismaa
    Research Program of Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Am J Hum Genet 85:290-5. 2009

Detail Information

Publications47

  1. ncbi request reprint FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study
    Anu Suomalainen
    Research Programmes Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland
    Lancet Neurol 10:806-18. 2011
    ..We investigated in a retrospective diagnostic study whether FGF-21 could be a biomarker for human mitochondrial disorders...
  2. pmc Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice
    Emil Ylikallio
    Biomedicum Helsinki, Research Programme of Molecular Neurology, University of Helsinki, Haartmaninkatu 8, PO Box 63, 00290 Helsinki, Finland
    Nucleic Acids Res 38:8208-18. 2010
    ..Our results establish that RNR is not limiting for mtDNA copy number in mice, and provide new evidence for the importance of balanced dNTP pools in mtDNA maintenance in postmitotic tissues...
  3. doi request reprint Fibroblast growth factor 21: a novel biomarker for human muscle-manifesting mitochondrial disorders
    Anu Suomalainen
    University of Helsinki, Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, Haartmaninkatu 8, Helsinki 00290, Finland
    Expert Opin Med Diagn 7:313-7. 2013
    ..Recent molecular studies have found that serum fibroblast growth factor 21 (FGF21) has potential to be a biomarker for muscle-manifesting mitochondrial disease, as well as for follow-up of disease progression and effect of intervention...
  4. doi request reprint Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy
    Christopher J Carroll
    Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, r C523B, Haartmaninkatu 8, Helsinki 00290, Finland
    J Med Genet 50:151-9. 2013
    ..We investigated the genetic basis for infantile onset recessive hypertrophic cardiomyopathy in two siblings...
  5. doi request reprint Biomarkers for mitochondrial respiratory chain disorders
    Anu Suomalainen
    Research Program of Molecular Neurology, Biomedicum Helsinki, r C523B, University of Helsinki, Helsinki, Finland
    J Inherit Metab Dis 34:277-82. 2011
    ..Identified molecular signals or metabolic fingerprints have the potential to be highly useful biomarkers for future diagnosis of mitochondrial respiratory chain disorders...
  6. doi request reprint Mitochondrial DNA depletion syndromes--many genes, common mechanisms
    Anu Suomalainen
    Research Program of Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Neuromuscul Disord 20:429-37. 2010
    ..We review here the current knowledge on the clinical and molecular genetic features of mitochondrial DNA depletion syndrome...
  7. doi request reprint Therapy for mitochondrial disorders: little proof, high research activity, some promise
    Anu Suomalainen
    Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Semin Fetal Neonatal Med 16:236-40. 2011
    ..Many of these strategies aim to slow down the disease progression or are palliative in nature. However, currently very little evidence for any kind of therapeutic tools is available from double-blind controlled studies...
  8. doi request reprint Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome
    Alexandra Götz
    Research Programme of Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Brain 131:2841-50. 2008
    ..We conclude that TK2 mutations may manifest as infantile-onset fatal myopathy with dystrophic features, but should be considered also in infantile progressive encephalomyopathy with wide-spread mtDNA depletion...
  9. ncbi request reprint Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
    Anna H Hakonen
    Research Program of Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Finland
    Brain 130:3032-40. 2007
    ....
  10. pmc A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions
    Henna Tyynismaa
    Research Program of Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Am J Hum Genet 85:290-5. 2009
    ..We conclude that dominant-negative or gain-of-function mutations in RRM2B are a cause of multiple mtDNA deletions and adPEO...
  11. doi request reprint Ketogenic diet slows down mitochondrial myopathy progression in mice
    Sofia Ahola-Erkkilä
    Research Program of Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki 00290, Finland
    Hum Mol Genet 19:1974-84. 2010
    ..Our results show that mitochondrial myopathy induces widespread metabolic changes, and that KD can slow down progression of the disease in mice. These results suggest that KD may be useful for mitochondrial late-onset myopathies...
  12. pmc Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
    Henna Tyynismaa
    Department of Neurology and Programme of Neurosciences, University of Helsinki, 00290, Helsinki, Finland
    Proc Natl Acad Sci U S A 102:17687-92. 2005
    ..This model is a valuable tool for therapy development and testing for adult-onset mitochondrial disorders...
  13. doi request reprint Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion
    Anna H Hakonen
    Research Program of Molecular Neurology, University of Helsinki, Helsinki, Finland
    Hum Mol Genet 17:3822-35. 2008
    ..Our results indicate that IOSCA is a new member of the mitochondrial DNA depletion syndromes...
  14. pmc Mouse models of mitochondrial DNA defects and their relevance for human disease
    Henna Tyynismaa
    Biomedicum Helsinki, Research Programme of Molecular Neurology, r C523B, University of Helsinki, Haartmaninkatu 8, PO Box 63, 00290 Helsinki, Finland
    EMBO Rep 10:137-43. 2009
    ..Here, we review recently developed mouse models, and their contribution to our knowledge of mtDNA maintenance and its role in disease...
  15. pmc Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G
    Eino J H Palin
    Research Program of Molecular Neurology, Biomedicum Helsinki, r C523B, University of Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland
    Biochim Biophys Acta 1802:545-51. 2010
    ..Furthermore, results from the cell models were concurrent with the findings from patients, and support our biochemical findings...
  16. doi request reprint Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice
    Shuichi Yatsuga
    Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Haartmaninkatu 8, Helsinki 00290, Finland
    Hum Mol Genet 21:526-35. 2012
    ..However, as bezafibrate has been tolerated well by humans, the beneficial muscle findings in Deletor mice support consideration of bezafibrate trials on adult patients with mitochondrial myopathy...
  17. doi request reprint Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions
    Henna Tyynismaa
    Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, Haartmaninkatu 8, Helsinki 00290, Finland
    Hum Mol Genet 21:66-75. 2012
    ....
  18. ncbi request reprint High mitochondrial DNA copy number has detrimental effects in mice
    Emil Ylikallio
    Biomedicum Helsinki, Research Program of Molecular Neurology, University of Helsinki, and Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland
    Hum Mol Genet 19:2695-705. 2010
    ..In conclusion, we show that Twinkle acts as a regulator of mtDNA replication initiation, and provide evidence that high mtDNA copy number and alteration of nucleoid architecture may be detrimental to mitochondrial function...
  19. doi request reprint Mitochondrial myopathy induces a starvation-like response
    Henna Tyynismaa
    Research Program of Molecular Neurology, Biomedicum Helsinki, 00290 Helsinki, Finland
    Hum Mol Genet 19:3948-58. 2010
    ..These results may have important implications for understanding the metabolic consequences of mitochondrial myopathies...
  20. ncbi request reprint Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky
    Kaisu Nikali
    Department of Molecular Medicine, National Public Health Institute, University of Helsinki, Finland
    Hum Mol Genet 14:2981-90. 2005
    ....
  21. pmc Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model
    Riikka H Hämäläinen
    Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, 00280, Helsinki, Finland
    Proc Natl Acad Sci U S A 110:E3622-30. 2013
    ..Other RC enzymes showed normal mitochondrial network distribution. Our data show that cellular context actively modifies RC deficiency manifestation in MELAS and that autophagy is a significant component of neuronal MELAS pathogenesis. ..
  22. ncbi request reprint Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy
    Jenni M Elo
    Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, 00290 Helsinki, Finland
    Hum Mol Genet 21:4521-9. 2012
    ..This study establishes a new genetic cause of infantile mitochondrial Alpers encephalopathy and reports a new mitochondrial aminoacyl-tRNA synthetase as a cause of mitochondrial disease...
  23. pmc Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy
    Alexandra Götz
    Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Am J Hum Genet 88:635-42. 2011
    ..Furthermore, we show that mitochondrial disorders extend to prenatal life and are an important cause of early infantile cardiac failure...
  24. doi request reprint New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies
    Tiina Ojala
    Department of Pediatric Cardiology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    Pediatr Res 72:432-7. 2012
    ..We report a new mutation in the human DNAJC19 gene that causes early onset dilated cardiomyopathy syndrome (DCMA)...
  25. doi request reprint Liver fat but not other adiposity measures influence circulating FGF21 levels in healthy young adult twins
    Henna Tyynismaa
    Research Program of Molecular Neurology, Biomedicum Helsinki, r C523B, Haartmaninkatu 8, 00290 Helsinki, Finland
    J Clin Endocrinol Metab 96:E351-5. 2011
    ..The circulating FGF21 concentration is fairly low in normal individuals, but elevated hormone levels may associate with obesity. The determining factors of FGF21 levels in humans are not clear...
  26. doi request reprint Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation
    Alexandra Götz
    Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Pediatr Res 72:90-4. 2012
    ..Heteroplasmic mitochondrial DNA (mtDNA) mutations are an important cause of childhood disorders, but the role of homoplasmic mtDNA mutations in severe neonatal manifestations is not well understood...
  27. doi request reprint Mouse models of mtDNA replication diseases
    Henna Tyynismaa
    Biomedicum Helsinki, Research Programme of Molecular Neurology, University of Helsinki, Finland
    Methods 51:405-10. 2010
    ..Such models are essential tools for understanding the consequences of mtDNA replication defects on different tissues and on the metabolism of the whole organism...
  28. pmc Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin
    Anna H Hakonen
    Research Program of Neurosciences, Biomedicum Helsinki, Helsinki, Finland
    Am J Hum Genet 77:430-41. 2005
    ....
  29. doi request reprint Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders
    Eino J H Palin
    Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland
    Brain 136:2379-92. 2013
    ....
  30. pmc Comparison of solution-based exome capture methods for next generation sequencing
    Anna Maija Sulonen
    Institute for Molecular Medicine Finland FIMM, University of Helsinki, Biomedicum Helsinki 2U, Tukholmankatu 8, 00290 Helsinki, Finland
    Genome Biol 12:R94. 2011
    ..A control DNA sample was captured with all four capture methods and prepared for Illumina GAII sequencing. Sequence data from additional samples prepared with the same protocols were also used in the comparison...
  31. doi request reprint Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia
    Eino J H Palin
    Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland
    J Neurol Sci 315:160-3. 2012
    ....
  32. pmc Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ
    Liliya Euro
    Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland
    Nucleic Acids Res 39:9072-84. 2011
    ..Our results suggest that cluster prediction can be used as a diagnosis-supporting tool to evaluate the pathogenic role of new Pol γ variants...
  33. doi request reprint Somatic progenitor cell vulnerability to mitochondrial DNA mutagenesis underlies progeroid phenotypes in Polg mutator mice
    Kati J Ahlqvist
    Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, 00290 Helsinki, Finland
    Cell Metab 15:100-9. 2012
    ..We propose that SSC compartment is sensitive to mtDNA mutagenesis, and that mitochondrial dysfunction in SSCs can underlie progeroid manifestations...
  34. ncbi request reprint Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders
    Anna H Hakonen
    Research Program of Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Eur J Hum Genet 15:779-83. 2007
    ..They have effectively spread to populations of European descent with carrier frequencies up to 1% in several populations. Our data predict that these mutations are common causes of ataxia and Alpers disease in the Western world...
  35. ncbi request reprint A juvenile case of MELAS with T3271C mitochondrial DNA mutation
    Laura Stenqvist
    Department of Neurology, Biomedicum Helsinki, Helsinki University, FIN 00290 Helsinki, Finland
    Pediatr Res 58:258-62. 2005
    ..Our patient shows that despite very high proportion of mutant mtDNA, the T3271C mutation can give rise to mild symptoms in childhood and to a rapid terminal phase that simulates encephalitis...
  36. pmc Global transcript profiles of fat in monozygotic twins discordant for BMI: pathways behind acquired obesity
    Kirsi H Pietiläinen
    Obesity Research Unit, Department of Psychiatry, Helsinki University Central Hospital, Helsinki, Finland
    PLoS Med 5:e51. 2008
    ..The goal of this study was to investigate this important acquired component and expose obesity-induced changes in biological pathways in an identical genetic background...
  37. doi request reprint Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism
    Annina Lyly
    National Public Health Institute and FIMM, Institute for Molecular Medicine, Biomedicum Helsinki, PO Box 104, Fin 00251 Helsinki, Finland
    Hum Mol Genet 17:1406-17. 2008
    ..These data indicate neuron-specific changes for F(1)-complex in the Ppt1-deficient cells and give clues for a possible link between lipid metabolism and neurodegeneration in INCL...
  38. doi request reprint Mechanisms of mitochondrial diseases
    Emil Ylikallio
    Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Finland
    Ann Med 44:41-59. 2012
    ..The putative consequences of mitochondrial dysfunction on a cellular level are discussed...
  39. doi request reprint Do mitochondrial mutations cause recurrent miscarriage?
    Milja Kaare
    Folkhalsan Institute of Genetics, University of Helsinki, Helsinki, Finland
    Mol Hum Reprod 15:295-300. 2009
    ..In addition, none of the detected variations were previously known to be pathogenic and therefore they are an unlikely cause of miscarriage...
  40. ncbi request reprint Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number
    Henna Tyynismaa
    Department of Neurology and Programme of Neurosciences, University of Helsinki, 00290 Helsinki, Finland
    Hum Mol Genet 13:3219-27. 2004
    ..These data demonstrate that Twinkle helicase is essential for mtDNA maintenance, and that it may be a key regulator of mtDNA copy number in mammals...
  41. doi request reprint Mitochondrial coenzyme Q10 determination by isotope-dilution liquid chromatography-tandem mass spectrometry
    Outi Itkonen
    HUSLAB, Helsinki University Central Hospital, Helsinki, Finland
    Clin Chem 59:1260-7. 2013
    ..We aimed to develop and validate an accurate liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for the determination of mitochondrial CoQ10 in clinical samples...
  42. ncbi request reprint Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome
    Petri T Luoma
    Programme of Neurosciences, Biomedicum Helsinki, Helsinki University, Finland
    Hum Mol Genet 14:1907-20. 2005
    ....
  43. doi request reprint CIP2A increases self-renewal and is linked to Myc in neural progenitor cells
    Laura Kerosuo
    Medical Biochemistry and Developmental Biology, Institute of Biomedicine, University of Helsinki, Helsinki, Finland
    Differentiation 80:68-77. 2010
    ....
  44. ncbi request reprint Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3
    Nahid A Khan
    Molecular Neurology, Research Programs Unit, University of Helsinki, Helsinki, Finland
    EMBO Mol Med 6:721-31. 2014
    ..These results indicate that NR and strategies boosting NAD(+) levels are a promising treatment strategy for mitochondrial myopathy. ..
  45. ncbi request reprint Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study
    Petri Luoma
    Department of Neurology and Programme of Neurosciences, Biomedicum Helsinki, Helsinki University, and Helsinki University Central Hospital, Helsinki, Finland
    Lancet 364:875-82. 2004
    ..We aimed to analyse the gene sequence of POLG in patients with progressive external ophthalmoplegia and their healthy relatives...
  46. doi request reprint Small molecule inhibitors promote efficient generation of induced pluripotent stem cells from human skeletal myoblasts
    Ras Trokovic
    Research Programs Unit, Molecular Neurology, Biomedicum Stem Cell Center, University of Helsinki, Helsinki, Finland
    Stem Cells Dev 22:114-23. 2013
    ....
  47. pmc Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients
    Susa Enholm
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Haartmaninkatu 3, Helsinki, FIN 00014, Finland
    Am J Pathol 163:827-32. 2003
    ..As evaluated against national Finnish Polyposis Registry data MYH-associated colorectal cancer appears to be as common as colorectal cancer associated with familial adenomatous polyposis...