Ontology highlight
ABSTRACT:
SUBMITTER: Gammage PA
PROVIDER: S-EPMC6225988 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Gammage Payam A PA Viscomi Carlo C Simard Marie-Lune ML Costa Ana S H ASH Gaude Edoardo E Powell Christopher A CA Van Haute Lindsey L McCann Beverly J BJ Rebelo-Guiomar Pedro P Cerutti Raffaele R Zhang Lei L Rebar Edward J EJ Zeviani Massimo M Frezza Christian C Stewart James B JB Minczuk Michal M
Nature medicine 20180924 11
Mutations of the mitochondrial genome (mtDNA) underlie a substantial portion of mitochondrial disease burden. These disorders are currently incurable and effectively untreatable, with heterogeneous penetrance, presentation and prognosis. To address the lack of effective treatment for these disorders, we exploited a recently developed mouse model that recapitulates common molecular features of heteroplasmic mtDNA disease in cardiac tissue: the m.5024C>T tRNA<sup>Ala</sup> mouse. Through applicati ...[more]