The genotypic and phenotypic spectrum of MTO1 deficiency

O'Byrne J. J., Tarailo-Graovac M., Ghani A., Champion M., Deshpande C., DURSUN A., ...More

MOLECULAR GENETICS AND METABOLISM, vol.123, no.1, pp.28-42, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 123 Issue: 1
  • Publication Date: 2018
  • Doi Number: 10.1016/j.ymgme.2017.11.003
  • 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


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).