The genotypic and phenotypic spectrum of MTO1 deficiency

• Published in: Molecular genetics and metabolism Vol. 123; no. 1; pp. 28 - 42
• Main Authors: O'Byrne, James J., Tarailo-Graovac, Maja, Ghani, Aisha, Champion, Michael, Deshpande, Charu, Dursun, Ali, Ozgul, Riza K., Freisinger, Peter, Garber, Ian, Haack, Tobias B., Horvath, Rita, Barić, Ivo, Husain, Ralf A., Kluijtmans, Leo A.J., Kotzaeridou, Urania, Morris, Andrew A., Ross, Colin J., Santra, Saikat, Smeitink, Jan, Tarnopolsky, Mark, Wortmann, Saskia B., Mayr, Johannes A., Brunner-Krainz, Michaela, Prokisch, Holger, Wasserman, Wyeth W., Wevers, Ron A., Engelke, Udo F., Rodenburg, Richard J., Ting, Teck Wah, McFarland, Robert, Taylor, Robert W., Salvarinova, Ramona, van Karnebeek, Clara D.M.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.01.2018; Academic Press
• Subjects: Adolescent; Biopsy; Brain - diagnostic imaging; Brain - physiopathology; Cardiomyopathy; Cardiomyopathy, Hypertrophic - diagnostic imaging; Cardiomyopathy, Hypertrophic - genetics; Cardiomyopathy, Hypertrophic - physiopathology; Carrier Proteins - genetics; Carrier Proteins - metabolism; Child; Child, Preschool; Female; Frameshift Mutation; Hepatic Encephalopathy - diagnostic imaging; Hepatic Encephalopathy - genetics; Hepatic Encephalopathy - physiopathology; Humans; Infant; Infant, Newborn; Ketogenic diet; Lactic acidosis; Male; Metabolism, Inborn Errors - diagnostic imaging; Metabolism, Inborn Errors - genetics; Metabolism, Inborn Errors - physiopathology; Mitochondrial disease; Mitochondrial Diseases - genetics; Mitochondrial Diseases - metabolism; Mitochondrial Diseases - physiopathology; Mitochondrial translation optimization 1; Oxidative Phosphorylation; Oxidative Phosphorylation Defect; RNA-Binding Proteins; Oxidative Phosphorylation Defect; Q-TOF; WES; MRI; Cardiomyopathy; GDD; OXPHOS; MTO1; Mitochondrial disease; Ketogenic diet; HCM; Mitochondrial translation optimization 1; ID; Lactic acidosis

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 ex...