title: When man got his mtDNA deletions?
abstract: Somatic mtDNA mutations and deletions in particular are known to clonally expand within cells, eventually reaching detrimental intracellular concentrations. The possibility that clonal expansion is a slow process taking a lifetime had prompted an idea that founder mutations of mutant clones that cause mitochondrial dysfunction in the aged tissue might have originated early in life. If, conversely, expansion was fast, founder mutations should predominantly originate later in life. This distinction is important: indeed, from which mutations should we protect ourselves - those of early development/childhood or those happening at old age? Recently, high-resolution data describing the distribution of mtDNA deletions have been obtained using a novel, highly efficient method (Taylor et al., ). These data have been interpreted as supporting predominantly early origin of founder mutations. Re-analysis of the data implies that the data actually better fit mostly late origin of founders, although more research is clearly needed to resolve the controversy.
authors.affiliation: University of Geneva Medical School, Geneva, Switzerland.
authors.forename: Konstantin
authors.initials: K
authors.lastname: Popadin
authors.forename: Adeel
authors.initials: A
authors.lastname: Safdar
authors.forename: Yevgenya
authors.initials: Y
authors.lastname: Kraytsberg
authors.forename: Konstantin
authors.initials: K
authors.lastname: Khrapko
mesh_terms: D001921:Brain / Q000378:metabolism*; D004252:DNA Mutational Analysis / Q000379:methods*; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D017384:Sequence Deletion
chemical_list: D004272:DNA, Mitochondrial