Mutation analysis of CHCHD2 and CHCHD10 in Italian patients with mitochondrial myopathy

Mutations in CHCHD2 and CHCHD10 were recently reported in a broad spectrum of neurodegenerative diseases, e.g. Parkinson ’s disease, amyotrophic lateral sclerosis, frontotemporal dementia or mitochondrial myopathy (MM). The aim of the study was to evaluate the prevalence of CHCHD2 and CHCHD10 mutations in Italian MM patients without mitochondrial DNA mutations. The coding regions of CHCHD2 and CHCHD10 were sequenced in 62 MM patients. None of the patients showed CHCHD2 mutations, whereas one sporadic MM patient carried a homozygous Pro96Thr substitution in CHCHD10.

Source: Neurobiology of Aging - February 15, 2018 Category: Neuroscience Authors: Elisa Rubino, Ming Zhang, Tiziana Mongini, Silvia Boschi, Liliana Vercelli, Alessandro Vacca, Flora Govone, Annalisa Gai, Maria Teresa Giordana, Mark Grinberg, Ekaterina Rogaeva, Innocenzo Rainero Source Type: research