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It is widely held that changes in the distribution of mutant mtDNAs underlie the progressive nature of mtDNA diseases, but there are few data documenting such changes. We compared the levels of 3243 A-->G mutant mtDNA in blood at birth from Guthrie cards and at the time of diagnosis in a blood DNA sample from patients with mitochondrial encephalopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome. Paired blood DNA samples separated by 9-19 years were obtained from six patients with MELAS. Quantification of mutant load, by means of a solid-phase minisequencing technique, demonstrated a decline (range 12%-29%) in the proportion of mutant mtDNA in all cases (P=.0015, paired t-test). These results suggest that mutant mtDNA is slowly selected from rapidly dividing blood cells in MELAS.

Original publication

DOI

10.1086/316930

Type

Journal article

Journal

Am J Hum Genet

Publication Date

01/2001

Volume

68

Pages

238 - 240

Keywords

Adolescent, Adult, Child, DNA Mutational Analysis, DNA, Mitochondrial, Humans, Infant, Newborn, Longitudinal Studies, MELAS Syndrome, Mutation, Sequence Analysis, DNA, Time Factors