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Mitochondrial disease and endocrine dysfunction

Chow, J; Rahman, J; Achermann, JC; Dattani, MT; Rahman, S; (2017) Mitochondrial disease and endocrine dysfunction. Nature Reviews Endocrinology , 13 (2) pp. 92-104. 10.1038/nrendo.2016.151. Green open access

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Abstract

Mitochondria are critical organelles for endocrine health; steroid hormone biosynthesis occurs in these organelles and they provide energy in the form of ATP for hormone production and trafficking. Mitochondrial diseases are multisystem disorders that feature defective oxidative phosphorylation, and are characterized by enormous clinical, biochemical and genetic heterogeneity. To date, mitochondrial diseases have been found to result from >250 monogenic defects encoded across two genomes: the nuclear genome and the ancient circular mitochondrial genome located within mitochondria themselves. Endocrine dysfunction is often observed in genetic mitochondrial diseases and reflects decreased intracellular production or extracellular secretion of hormones. Diabetes mellitus is the most frequently described endocrine disturbance in patients with inherited mitochondrial diseases, but other endocrine manifestations in these patients can include growth hormone deficiency, hypogonadism, adrenal dysfunction, hypoparathyroidism and thyroid disease. Although mitochondrial endocrine dysfunction frequently occurs in the context of multisystem disease, some mitochondrial disorders are characterized by isolated endocrine involvement. Furthermore, additional monogenic mitochondrial endocrine diseases are anticipated to be revealed by the application of genome-wide next-generation sequencing approaches in the future. Understanding the mitochondrial basis of endocrine disturbance is key to developing innovative therapies for patients with mitochondrial diseases.

Type: Article
Title: Mitochondrial disease and endocrine dysfunction
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/nrendo.2016.151
Publisher version: http://dx.doi.org/10.1038/nrendo.2016.151
Language: English
Additional information: Copyright © 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved. The final publication is available at Nature Reviews via http://dx.doi.org/10.1038/nrendo.2016.151
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1521760
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