Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic Neuropathy

Update item information
Title Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic Neuropathy
Creator Emily Li, Valentina Emmanuele, Francine Testa, Cristiane De Araujo Martins Moreno, Michio Hirano, Robert L. Lesser
Affiliation Department of Ophthalmology and Visual Science (EL, RLL), Yale University School of Medicine, New Haven, Connecticut; Department of Neurology (VE, CDAMM, MH), Columbia University Irving Medical Center, New York, New York; and Department of Neurology (FT, RLL), Yale University School of Medicine, New Haven, Connecticut
Abstract Mitochondrial diseases encompass a wide spectrum of inherited disorders associated with dysfunction of mitochondrial oxidative phosphorylation. They can arise at any age and can involve virtually any organ system, often leading to multisystem presentations (1). The birth prevalence is 6.2 in 100,000 and significantly higher in consanguineous communities (2). Mitochondrial diseases have been ascribed to numerous mutations both in nuclear and mitochondrial DNA. Mitochondrial tRNA translation opt-mization 1 (MTO1) gene is a nuclear gene required for mitochondrial protein translation. Biallelic mutations in this gene were initially described in 2012 in patients with infantile onset cardiomyopathy and lactic acidosis (3). Since then, 35 patients from 27 unrelated families have been reported (4-11). Of these, 11 cases (31%) were associated with optic neuropathy (4,5,7,9,10). We report 2 novel MTO1 mutations, one of which is the first nonsenseMTO1mutation known to cause human disease, associated with hereditary optic neuropathy in our patient but not in his brother, who had the same mutations.
OCR Text Show
Publisher Lippincott, Williams & Wilkins
Date 2020-09
Type Text
Source Journal of Neuro-Ophthalmology, September 2020, Volume 40, Issue 3
Language eng
Rights Management © North American Neuro-Ophthalmology Society
Publication Type Journal Article
ARK ark:/87278/s6cs1hsr
Setname ehsl_novel_jno
Date Created 2020-09-15
Date Modified 2021-05-06
ID 1592978
Reference URL https://collections.lib.utah.edu/ark:/87278/s6cs1hsr
Back to Search Results