Ontology highlight
ABSTRACT:
SUBMITTER: Hornig-Do HT
PROVIDER: S-EPMC3927954 | biostudies-literature | 2014 Feb
REPOSITORIES: biostudies-literature
Hornig-Do Hue Tran HT Montanari Arianna A Rozanska Agata A Tuppen Helen A HA Almalki Abdulraheem A AA Abg-Kamaludin Dyg P DP Frontali Laura L Francisci Silvia S Lightowlers Robert N RN Chrzanowska-Lightowlers Zofia M ZM
EMBO molecular medicine 20140110 2
Disorders of the mitochondrial genome cause a wide spectrum of disease, these present mainly as neurological and/or muscle related pathologies. Due to the intractability of the human mitochondrial genome there are currently no effective treatments for these disorders. The majority of the pathogenic mutations lie in the genes encoding mitochondrial tRNAs. Consequently, the biochemical deficiency is due to mitochondrial protein synthesis defects, which manifest as aberrant cellular respiration and ...[more]