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Leucocytes Mutation load Declines with Age in Carriers of the m.3243A>G Mutation. A 10-year Prospective Cohort

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  • Jakob Høgild Langdahl
  • Martin Larsen
  • Morten Frost
  • Per Heden Andersen
  • Knud Bonnet Yderstraede
  • John Vissing
  • Morten Dunø
  • Mads Thomassen
  • Anja Lisbeth Frederiksen
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Carriers of the mitochondrial mutation m.3243A>G presents highly variable phenotypes including mitochondrial encephalomyopaty, lactoacidosis and stroke-like episodes (MELAS). We conducted a follow-up study to evaluate changes in leucocyte heteroplasmy and the clinical phenotypes in m.3243A>G carriers. Leucocyte heteroplasmy was determined by next generation sequencing covered by 100.000 X reads in 32 individuals with a median follow-up of 10.2 years. Ten-year clinical follow-up is reported on 46 individuals. The annual leucocyte mutation level declined by -0.7 (± 0.4) percentage points/year (p<0.0001), and correlated with the level of the initial sample (ρ =-0.92, p<0.0001). Eleven of 46 m.3243A>G carriers died, and clinical symptoms progressed. This longitudinal study demonstrates the decline in leucocyte m.3243A>G heteroplasmy associates with the level of the initial sample. Further, there was a high mortality among carriers.

Original languageEnglish
JournalClinical Genetics
Volume93
Issue number4
Pages (from-to)925-928
ISSN0009-9163
DOIs
Publication statusPublished - 2018

    Research areas

  • Journal Article

ID: 52407427