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Lookup NU author(s): Vivienne Neeve, Dr Angela Pyle, Dr Veronika Boczonadi, Dr Aurora Gomez Duran, Dr Helen GriffinORCiD, Dr Mauro Santibanez Koref, Professor Patrick Chinnery, Professor Rita HorvathORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
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.
Author(s): Neeve VC, Pyle A, Boczonadi V, Gómez-Durán A, Griffin H, Santibanez-Koref M, Gaiser U, Bauer P, Tzschach A, Chinnery PF, Horvath R
Publication type: Article
Publication status: Published
Journal: Mitochondrion
Year: 2013
Volume: 13
Issue: 6
Pages: 743-748
Print publication date: 01/11/2013
Online publication date: 14/03/2013
Acceptance date: 05/03/2013
Date deposited: 07/07/2015
ISSN (print): 1567-7249
ISSN (electronic): 1872-8278
Publisher: Elsevier
URL: http://dx.doi.org/10.1016/j.mito.2013.03.002
DOI: 10.1016/j.mito.2013.03.002
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