Elsevier

Mitochondrion

Volume 13, Issue 6, November 2013, Pages 743-748
Mitochondrion

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

https://doi.org/10.1016/j.mito.2013.03.002Get rights and content
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open access

Highlights

  • MTFMT mutations lead to mild Leigh syndrome and combined respiratory chain defect.

  • Blue native PAGE showed decreased complex I and IV but normal mt-tRNAMet.

  • Next generation sequencing (NGS) is a very powerful tool in mitochondrial disease.

  • It can be optimally exploited if combined with phenotyping and functional studies.

Abstract

Exome sequencing identified compound heterozygous mutations in the recently discovered mitochondrial methionyl-tRNA formyltransferase (MTFMT) gene in two sisters with mild Leigh syndrome and combined respiratory chain deficiency. The mutations lead to undetectable levels of the MTFMT protein. Blue native polyacrylamide gel electrophoresis showed decreased complexes I and IV, and additional products stained with complex V antibodies, however the overall steady state level of mt-tRNAMet was normal. Our data illustrate that exome sequencing is an excellent diagnostic tool, and its value in clinical medicine is enormous, however it can only be optimally exploited if combined with detailed phenotyping and functional studies.

Keywords

Mitochondrial encephalomyopathy
Leigh syndrome
Mitochondrial translation
mt-tRNA modification

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