64,806 Icelanders study reveals hypermutability in mtDNA, A>G mutation linked to MELAS syndrome, and a significant bottleneck in oocytes causing rapid new mutations.
A study by deCODE genetics involving 64,806 Icelanders revealed insights into mitochondrial DNA (mtDNA) mutations and maternal transmission. The research, published in Cell, discovered hypermutability at specific positions in mtDNA, including the A>G mutation at position 3243, associated with MELAS syndrome. The study also highlighted a drastic bottleneck in oocytes leading to rapid changes in new mutations and suggested that many rare, pathogenic mtDNA mutations contributing to disease burden in human populations remain undiscovered.
June 07, 2024
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