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, ss.28-42, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 123 Konu: 1
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1016/j.ymgme.2017.11.003
  • Dergi Adı: MOLECULAR GENETICS AND METABOLISM
  • Sayfa Sayıları: ss.28-42

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).