The genotypic and phenotypic spectrum of MTO1 deficiency
MOLECULAR GENETICS AND METABOLISM, vol.123, no.1, pp.28-42, 2018 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 123 Issue: 1
- Publication Date: 2018
- Doi Number: 10.1016/j.ymgme.2017.11.003
- Journal Name: MOLECULAR GENETICS AND METABOLISM
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.28-42
- Keywords: Mitochondrial disease, Lactic acidosis, Cardiomyopathy, Ketogenic diet, Mitochondrial translation optimization 1, Oxidative Phosphorylation Defect, MITOCHONDRIAL TRANSFER-RNAS, LACTIC-ACIDOSIS, HYPERTROPHIC CARDIOMYOPATHY, DISEASE, MUTATIONS, TRANSLATION, DISORDERS, DYSFUNCTION, CHILDREN, DEFECTS
- Hacettepe University Affiliated: Yes
Abstract
Background: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency -10 (COXPD10).