Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

Chronic progressive external ophthalmoplegia (CPEO) is common in mitochondrial disorders and is frequently associated with multiple mtDNA deletions. The onset is typically in adulthood, and affected subjects can also present with general muscle weakness. The underlying genetic defects comprise autosomal-dominant or recessive mutations in several nuclear genes, most of which play a role in mtDNA replication. Next-generation sequencing led to the identification of compound-heterozygous RNASEH1 mutations in two singleton subjects and a homozygous mutation in four siblings.

Source: The American Journal of Human Genetics - June 18, 2015 Category: Genetics & Stem Cells Authors: Aurelio Reyes, Laura Melchionda, Alessia Nasca, Franco Carrara, Eleonora Lamantea, Alice Zanolini, Costanza Lamperti, Mingyan Fang, Jianguo Zhang, Dario Ronchi, Sara Bonato, Gigliola Fagiolari, Maurizio Moggio, Daniele Ghezzi, Massimo Zeviani Tags: Report Source Type: research