
When man got his mt DNA deletions?
Author(s) -
Popadin Konstantin,
Safdar Adeel,
Kraytsberg Yevgenya,
Khrapko Konstantin
Publication year - 2014
Publication title -
aging cell
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.103
H-Index - 140
eISSN - 1474-9726
pISSN - 1474-9718
DOI - 10.1111/acel.12231
Subject(s) - biology , genetics , dna , computational biology , microbiology and biotechnology
Summary Somatic mt DNA 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 mt DNA deletions have been obtained using a novel, highly efficient method (Taylor et al ., [Taylor SD, 2014]). 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.