Abstract
Carriers of the mitochondrial mutation m.3243A>G presents highly variable phenotypes including mitochondrial encephalomyopathy, 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 000X reads in 32 individuals with a median follow-up of 10.2 years. Ten-year clinical follow-up is reported in 46 individuals. The annual leucocyte mutation level declined by −0.7 (±0.4) percentage points/year (P <.0001), and correlated with the level of the initial sample (ρ = −0.92, P <.0001). Eleven of 46 m.3243A>G carriers died and clinical symptoms progressed. This longitudinal study shows 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 language | English |
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Journal | Clinical Genetics |
Volume | 93 |
Issue number | 4 |
Pages (from-to) | 925-928 |
Number of pages | 4 |
ISSN | 0009-9163 |
DOIs | |
Publication status | Published - 2018 |
Keywords
- heteroplasmy
- m.3243A>G
- MELAS
- mitochondria