The genotypic and phenotypic spectrum of MTO1 deficiency

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

MOLECULAR GENETICS AND METABOLISM, cilt.123, sa.1, ss.28-42, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 123 Sayı: 1
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1016/j.ymgme.2017.11.003
  • Dergi Adı: MOLECULAR GENETICS AND METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.28-42
  • Anahtar Kelimeler: 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 Üniversitesi Adresli: Evet

Özet

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).