Reduced axonal diameter of peripheral nerve fibres in a mouse model of Rett syndrome

Bahey, N. G., Gadalla, K. K.E. , McGonigal, R., Bailey, M. E.S. , Edgar, J. M. and Cobb, S. R. (2017) Reduced axonal diameter of peripheral nerve fibres in a mouse model of Rett syndrome. Neuroscience, 358, pp. 261-268. (doi:10.1016/j.neuroscience.2017.06.061)

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Rett syndrome (RTT) is a neurological disorder characterized by motor and cognitive impairment, autonomic dysfunction and a loss of purposeful hand skills. In the majority of cases, typical RTT is caused by de novo mutations in the X-linked gene, MECP2. Alterations in the structure and function of neurons within the central nervous system of RTT patients and Mecp2-null mouse models are well established. In contrast, few studies have investigated the effects of MeCP2-deficiency on peripheral nerves. In this study, we conducted detailed morphometric as well as functional analysis of the sciatic nerves of symptomatic adult female Mecp2+/- mice. We observed a significant reduction in the mean diameter of myelinated nerve fibers in Mecp2+/- mice. In myelinated fibers, mitochondrial densities per unit area of axoplasm were significantly altered in Mecp2+/- mice. However, conduction properties of the sciatic nerve of Mecp2 knockout mice were not different from control. These subtle changes in myelinated peripheral nerve fibers in heterozygous Mecp2 knockout mice could potentially explain some RTT phenotypes.

Item Type:Articles
Additional Information:This work was supported by Rett Syndrome Research Trust, Rett Syndrome Association Scotland, the R.S. MacDonald Charitable Trust, the Stoneygate Trust and the Rosetrees Trust.
Glasgow Author(s) Enlighten ID:Cobb, Dr Stuart and McGonigal, Dr Rhona and Gadalla, Dr Kamal and Edgar, Dr Julia and Bailey, Dr Mark and Bahey, Mrs Noha
Authors: Bahey, N. G., Gadalla, K. K.E., McGonigal, R., Bailey, M. E.S., Edgar, J. M., and Cobb, S. R.
College/School:College of Medical Veterinary and Life Sciences > Institute of Infection Immunity and Inflammation
College of Medical Veterinary and Life Sciences > Institute of Neuroscience and Psychology
College of Medical Veterinary and Life Sciences > School of Life Sciences
Journal Name:Neuroscience
ISSN (Online):1873-7544
Published Online:04 July 2017
Copyright Holders:Copyright © 2017 IBRO
First Published:First published in Neuroscience 358:261-268
Publisher Policy:Reproduced in accordance with the copyright policy of the publisher

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