Article
Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre Syndrome.
Nucleic acids research - 7 Jan 2013
Comte Caroline, Tonin Yann, Heckel-Mager Anne-Marie, Boucheham Abdeldjalil, Smirnov Alexandre, Auré Karine, Lombès Anne, Martin Robert P, Entelis Nina, Tarassov Ivan
Abstract excerpt
Mitochondrial mutations, an important cause of incurable human neuromuscular diseases, are mostly heteroplasmic: mutated mitochondrial DNA is present in cells simultaneously with wild-type genomes, the pathogenic threshold being generally >70% of mutant mtDNA. We studied whether heteroplasmy level could be decreased by specifically designed oligoribonucleotides, targeted into mitochondria by the pathway...
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