Journal article

Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): Implications for the disease phenotype

WA Gold, SL Williamson, S Kaur, IP Hargreaves, JM Land, GJ Pelka, PPL Tam, J Christodoulou



Rett syndrome (RTT) is a severe neurodevelopmental disorder, predominantly caused by mutations in the X-linked Methyl-CpG-binding protein 2 (MECP2) gene. Patients present with numerous functional deficits including intellectual disability and abnormalities of movement. Clinical and biochemical features may overlap with those seen in patients with primary mitochondrial respiratory chain disorders. In the late stages of the disorder, patients suffer from motor deterioration and usually require assisted mobility. Using a mouse model of RTT (Mecp2(tm1Tam)), we studied the mitochondrial function in the hind-limb skeletal muscle of these mice. We identified a reduction in cytochrome c oxidase subu..

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Awarded by National Health and Medical Research Council (NHMRC) of Australia

Funding Acknowledgements

We wish to thank Dr Frederic Vaz, Academic Medical Centre, Amsterdam, The Netherlands, for the cardiolipin analyses. This work was supported by the National Health and Medical Research Council (NHMRC) of Australia (Project Grant 457238); the Rett Syndrome Association of New South Wales; the Rett Syndrome Australian Research Fund; and the Rett Syndrome Association of Australia. G.J.P. was an NHMRC Biomedical (Peter Doherty) Fellow. P.P.L.T. is a NHMRC Senior Principal Research Fellow. I.P.H. and J.M.L. were supported by the UK Department of Health's NIHR Biomedical Research Centres funding scheme.