The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages.

摘要: The A-to-G transition mutation in the tRNALys gene of mitochondrial DNA (mtDNA), characteristic for maternally inherited MERRF syndrome (myoclonic epilepsy with ragged red fibers), has been identified by point mutation-specific polymerase chain reaction extraocular muscle from 11 16 healthy people different ages. No was found navel-string samples 5 newborns, HeLa cells, and 2 individuals younger than 20 years. On other hand, is present all tested 74–89-year-old 6 9 20–70-year-old individuals. amount mutated total mtDNA estimated ‘mispairing PCR’ 74 89 years to 2.0 2.4%, respectively. In most tissue occurs together ‘common deletion’ mtDNA, which previously shown accumulate increasing age. It proposed that during aging, deletions mutations accumulate, could impair energetics.