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

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.

Publication metadata

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


DOI: 10.1016/j.mito.2013.03.002


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Funder referenceFunder name
UK NIHR Biomedical Research Centre for Ageing and Age-related Disease award
UK Parkinson's Disease Society
Medical Research Council (MRC) Centre for Neuromuscular Diseases Biobank, Newcastle
G1000848Medical Research Council (UK)
101876/Z/13/ZWellcome Trust