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Lookup NU author(s): Dr Andrew Schaefer, Professor Mark Walker, Emeritus Professor Doug Turnbull, Professor Robert Taylor
Endocrine dysfunction in mitochondrial disease is commonplace, but predominantly restricted to disease of the endocrine pancreas resulting in diabetes mellitus. Other endocrine manifestations occur, but are relatively rare by comparison. In mitochondrial disease, neuromuscular symptoms often dominate the clinical phenotype, but it is of paramount importance to appreciate the multi-system nature of the disease, of which endocrine dysfunction may be a part. The numerous phenotypes attributable to pathogenic mutations in both the mitochondrial (mtDNA) and nuclear DNA creates a complex and heterogeneous catalogue of disease which can be difficult to navigate for novices and experts alike. In this article we provide an overview of the endocrine disorders associated with mitochondrial disease, the way in which the underlying mitochondrial disorder influences the clinical presentation, and how these factors influence subsequent management. (C) 2013 The Authors. Published by Elsevier Ireland Ltd. All rights reserved.
Author(s): Schaefer AM, Walker M, Turnbull DM, Taylor RW
Publication type: Review
Publication status: Published
Journal: Molecular and Cellular Endocrinology
Year: 2013
Volume: 379
Issue: 1-2
Pages: 2-11
Print publication date: 15/10/2013
Online publication date: 12/06/2013
ISSN (print): 0303-7207
ISSN (electronic): 1872-8057
Publisher: ELSEVIER IRELAND LTD
URL: http://dx.doi.org/10.1016/j.mce.2013.06.004
DOI: 10.1016/j.mce.2013.06.004
