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Mitochondrial disease and endocrine dysfunction.
- Source :
-
Nature reviews. Endocrinology [Nat Rev Endocrinol] 2017 Feb; Vol. 13 (2), pp. 92-104. Date of Electronic Publication: 2016 Oct 07. - Publication Year :
- 2017
-
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.
- Subjects :
- Animals
DNA, Mitochondrial genetics
DNA, Mitochondrial metabolism
Diabetes Mellitus genetics
Diabetes Mellitus metabolism
Diabetes Mellitus pathology
Endocrine System Diseases pathology
Humans
Mitochondria genetics
Mitochondria metabolism
Mitochondrial Diseases pathology
Thyroid Diseases genetics
Thyroid Diseases metabolism
Thyroid Diseases pathology
Endocrine System Diseases genetics
Endocrine System Diseases metabolism
Mitochondrial Diseases genetics
Mitochondrial Diseases metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1759-5037
- Volume :
- 13
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Nature reviews. Endocrinology
- Publication Type :
- Academic Journal
- Accession number :
- 27716753
- Full Text :
- https://doi.org/10.1038/nrendo.2016.151