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01-04-2017 | Short Communication

Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype

Authors: Roberta La Piana, Woranontee Weraarpachai, Luis H. Ospina, Martine Tetreault, Jacek Majewski, G. Bruce Pike, Jean-Claude Decarie, Donatella Tampieri, Bernard Brais, Eric A. Shoubridge, Care4Rare Canada Consortium

Published in: Neurogenetics | Issue 2/2017

Abstract

Mitochondrial protein synthesis is initiated by formylated tRNA-methionine, which requires the activity of MTFMT, a methionyl-tRNA formyltransferase. Mutations in MTFMT have been associated with Leigh syndrome, early-onset mitochondrial leukoencephalopathy, microcephaly, ataxia, and cardiomyopathy. We identified compound heterozygous MTFMT mutations in a patient with a mild neurological phenotype and late-onset progressive visual impairment. MRI studies documented a progressive and selective involvement of the retrochiasmatic visual pathway. MTFMT was undetectable by immunoblot analysis of patient fibroblasts, resulting in specific defects in mitochondrial protein synthesis and assembly of the oxidative phosphorylation complexes. This report expands the clinical and MRI phenotypes associated with MTFMT mutations, illustrating the complexity of genotype-phenotype relationships in mitochondrial translation disorders.

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Title: Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype
Authors: Roberta La Piana
Woranontee Weraarpachai
Luis H. Ospina
Martine Tetreault
Jacek Majewski
G. Bruce Pike
Jean-Claude Decarie
Donatella Tampieri
Bernard Brais
Eric A. Shoubridge
Care4Rare Canada Consortium
Publication date: 01-04-2017
Publisher: Springer Berlin Heidelberg
Published in: Neurogenetics / Issue 2/2017
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-016-0506-0

At a glance: The STEP trials

Springer Medicine

Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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