Henna Tyynismaa

Summary

Affiliation: University of Helsinki
Country: Finland

Publications

  1. pmc Mixing and matching mitochondrial aminoacyl synthetases and their tRNAs: a new way to treat respiratory chain disorders?
    Henna Tyynismaa
    Research Programs Unit Molecular Neurology, Biomedicum Helsinki, Helsinki, Finland
    EMBO Mol Med 6:155-7. 2014
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. pmc Serum angiopoietin-like 4 protein levels and expression in adipose tissue are inversely correlated with obesity in monozygotic twins
    Marius R Robciuc
    National Institute for Health and Welfare, Biomedicum, Helsinki, Finland
    J Lipid Res 52:1575-82. 2011
  9. 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
  10. 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

Collaborators

Detail Information

Publications25

  1. pmc Mixing and matching mitochondrial aminoacyl synthetases and their tRNAs: a new way to treat respiratory chain disorders?
    Henna Tyynismaa
    Research Programs Unit Molecular Neurology, Biomedicum Helsinki, Helsinki, Finland
    EMBO Mol Med 6:155-7. 2014
    ....
  2. 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
    ....
  3. 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...
  4. 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...
  5. 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...
  6. 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...
  7. 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...
  8. pmc Serum angiopoietin-like 4 protein levels and expression in adipose tissue are inversely correlated with obesity in monozygotic twins
    Marius R Robciuc
    National Institute for Health and Welfare, Biomedicum, Helsinki, Finland
    J Lipid Res 52:1575-82. 2011
    ..24, P = 0.01) and at-ABHD5 (r = 0.41, P = 0.005) expression. Our results demonstrated that variation in Angptl4 concentration was only modestly accounted for by genetic factors and suggest a role for Angptl4 in acquired obesity in humans...
  9. 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...
  10. 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...
  11. 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...
  12. 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...
  13. 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...
  14. doi request reprint Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy
    Emil Ylikallio
    Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, Finland
    Hum Mol Genet 22:2975-83. 2013
    ..Our results suggest that loss-of-function mutations in TRIM2 are a cause of axonal neuropathy, which we propose to develop as a consequence of axonal accumulation of neurofilaments, secondary to lack of its ubiquitination by TRIM2. ..
  15. 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...
  16. 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...
  17. 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...
  18. 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...
  19. doi request reprint Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland
    Mari Auranen
    Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Finland
    Neurogenetics 14:123-32. 2013
    ..Our findings broaden the understanding of GDAP1 mutations in CMT2 phenotypes and provide support for the use of whole-exome sequencing in CMT gene diagnostics...
  20. 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...
  21. pmc Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1
    Emil Ylikallio
    Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Eur J Hum Genet 22:522-7. 2014
    ..We conclude that targeted next-generation sequencing is an efficient tool for genetic screening in CMT2 that also aids in the selection of patients for genome-wide approaches. ..
  22. 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...
  23. doi request reprint Mitochondrial aminoacyl-tRNA synthetases in human disease
    Svetlana Konovalova
    Research Programs Unit, Molecular Neurology, Biomedicum Helsinki and Department of Medical Genetics, Haartman Institute, University of Helsinki, 00014 Helsinki, Finland
    Mol Genet Metab 108:206-11. 2013
    ....
  24. ncbi request reprint Genetic background of HSH in three Polish families and a patient with an X;9 translocation
    Reetta Jalkanen
    Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Biomedicum Helsinki, Helsinki, Finland
    Eur J Hum Genet 14:55-62. 2006
    ..Furthermore, re-evaluation of patient's clinical symptoms suggests that she did not have a typical HSH...
  25. ncbi request reprint A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families
    Henna Tyynismaa
    Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland
    Invest Ophthalmol Vis Sci 43:3160-4. 2002
    ..The purpose of this study was to map the disease locus in 20 Finnish families with autosomal dominant keratoconus, each family having two or more affected members and with no other associated genetic disease...