Ontology highlight
ABSTRACT:
SUBMITTER: Gal A
PROVIDER: S-EPMC5494519 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Gal Aniko A Balicza Peter P Weaver David D Naghdi Shamim S Joseph Suresh K SK Várnai Péter P Gyuris Tibor T Horváth Attila A Nagy Laszlo L Seifert Erin L EL Molnar Maria Judit MJ Hajnóczky György G
EMBO molecular medicine 20170701 7
The protein MSTO1 has been localized to mitochondria and linked to mitochondrial morphology, but its specific role has remained unclear. We identified a c.22G > A (p.Val8Met) mutation of MSTO1 in patients with minor physical abnormalities, myopathy, ataxia, and neurodevelopmental impairments. Lactate stress test and myopathological results suggest mitochondrial dysfunction. In patient fibroblasts, MSTO1 mRNA and protein abundance are decreased, mitochondria display fragmentation, aggregation, an ...[more]