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Endocrine disorders in mitochondrial disease

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.

Publication metadata

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



DOI: 10.1016/j.mce.2013.06.004