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

© 2017, Springer-Verlag Berlin Heidelberg. 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,...

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Main 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
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Published: 2018
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http://cmuir.cmu.ac.th/jspui/handle/6653943832/46416
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Institution: Chiang Mai University
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spelling th-cmuir.6653943832-464162018-04-25T07:26:11Z Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype 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 Agricultural and Biological Sciences © 2017, Springer-Verlag Berlin Heidelberg. 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. 2018-04-25T06:54:33Z 2018-04-25T06:54:33Z 2017-04-01 Journal 13646753 13646745 2-s2.0-85008500706 10.1007/s10048-016-0506-0 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85008500706&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/46416
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
topic Agricultural and Biological Sciences
spellingShingle Agricultural and Biological Sciences
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
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype
description © 2017, Springer-Verlag Berlin Heidelberg. 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.
format Journal
author 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
author_facet 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
author_sort Roberta La Piana
title Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype
title_short Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype
title_full Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype
title_fullStr Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype
title_full_unstemmed Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype
title_sort identification and functional characterization of a novel mtfmt mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype
publishDate 2018
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85008500706&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/46416
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