Resolving the Enigma of the Clonal Expansion of mtDNA Deletions.

ABSTRACT: Mitochondria are cell organelles that are special since they contain their own genetic material in the form of mitochondrial DNA (mtDNA). Damage and mutations of mtDNA are not only involved in several inherited human diseases but are also widely thought to play an important role during aging. In both cases, point mutations or large deletions accumulate inside cells, leading to functional impairment once a certain threshold has been surpassed. In most cases, it is a single type of mutant that clonally expands and out-competes the wild type mtDNA, with different mutant molecules being amplified in different cells. The challenge is to explain where the selection advantage for the accumulation comes from, why such a large range of different deletions seem to possess this advantage, and how thi

SUBMITTER: Kowald A 

PROVIDER: S-EPMC5867847 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature