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

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: La Piana R., Weraarpachai W., Ospina L., Tetreault M., Majewski J., Bruce Pike G., Decarie J., Tampieri D., Brais B., Shoubridge E.
Format: Journal
Published: 2017
Online Access:https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85008500706&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/40619
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Institution: Chiang Mai University
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spelling th-cmuir.6653943832-406192017-09-28T04:10:34Z Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype La Piana R. Weraarpachai W. Ospina L. Tetreault M. Majewski J. Bruce Pike G. Decarie J. Tampieri D. Brais B. Shoubridge E. © 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. 2017-09-28T04:10:34Z 2017-09-28T04:10:34Z 2 Journal 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/6653943832/40619
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
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 La Piana R.
Weraarpachai W.
Ospina L.
Tetreault M.
Majewski J.
Bruce Pike G.
Decarie J.
Tampieri D.
Brais B.
Shoubridge E.
spellingShingle La Piana R.
Weraarpachai W.
Ospina L.
Tetreault M.
Majewski J.
Bruce Pike G.
Decarie J.
Tampieri D.
Brais B.
Shoubridge E.
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype
author_facet La Piana R.
Weraarpachai W.
Ospina L.
Tetreault M.
Majewski J.
Bruce Pike G.
Decarie J.
Tampieri D.
Brais B.
Shoubridge E.
author_sort La Piana R.
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 2017
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85008500706&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/40619
_version_ 1681421850927693824

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