Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.

ABSTRACT: We report here the first families carrying recessive variants in the MSTO1 gene: compound heterozygous mutations were identified in two sisters and in an unrelated singleton case, who presented a multisystem complex phenotype mainly characterized by myopathy and cerebellar ataxia. Human MSTO1 is a poorly studied protein, suggested to have mitochondrial localization and to regulate morphology and distribution of mitochondria. As for other mutations affecting genes involved in mitochondrial dynamics, no biochemical defects typical of mitochondrial disorders were reported. Studies in patients' fibroblasts revealed that MSTO1 protein levels were strongly reduced, the mitochondrial network was fragmented, and the fusion events among mitochondria were decreased, confirming the deleterious effect

SUBMITTER: Nasca A 

PROVIDER: S-EPMC5575512 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature