A Case of Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes Associated With Diabetes Mellitus and Hypothalamo-Pituitary Dysfunction.

Joko, Takatoshi; Iwashige, Kenichi; Hashimoto, Toshihiko; Ono, Yasuhiro; Kobayashi, Kazuo; Sekiguchi, Naotaka; Kuroki, Tatsuya; Yanase, Toshihiko; Takayanagi, Ryoichi; Umeda, Fumio; Nawata, Hajime

doi:10.1507/endocrj.44.805

Cited by 12 publications

(8 citation statements)

References 11 publications

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“…It has also been reported in MELAS due to the m.3243A > G mutation in children (Yorifuji et al, 1996; Robeck et al, 1996; Balestri and Grosso, 2000; Matsuzaki et al, 2002) and in very rare adult cases with the MELAS (Ishii et al, 1991) and MIDD phenotypes (Joko et al, 1997). GH deficiency is often declared to be the cause of short stature in the mitochondrial myopathies, but the causes are more likely to be complex and multi-factorial for most patients (Wolny et al, 2009).…”

Section: Growth Hormone Deficiencymentioning

confidence: 83%

Endocrine disorders in mitochondrial disease

Schaefer

Walker

Turnbull

et al. 2013

Molecular and Cellular Endocrinology

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HighlightsMitochondrial disorders are common, genetically-heterogeneous diseases characterised by multisystem involvement.Endocrine dysfunction in mitochondrial disease is not uncommon.This is predominantly restricted to disease of the endocrine pancreas leading to diabetes mellitus.We review the common endocrine disorders associated with mitochondrial dysfunction.Optimal strategies for supporting and managing patients are discussed.

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Section: Growth Hormone Deficiencymentioning

confidence: 83%

Endocrine disorders in mitochondrial disease

Schaefer

Walker

Turnbull

et al. 2013

Molecular and Cellular Endocrinology

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“…A number of studies have reported a link between MELAS and low levels of gonadotropins and estradiol, most of the cases in these studies have not been genetically confirmed (31,32). In two studies women with the m.3243A>G variant had low levels of gonadotrophins (33,34). In these cases, as in many of the genetically unconfirmed cases of MELAS the hypogonadism was attributed to defects of the hypothalamic pituitary axis (32,34,35).…”

Section: Variants In Mitochondrial Dnamentioning

confidence: 97%

Genetics of mitochondrial dysfunction and infertility

2016

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Increasingly, mitochondria are being recognized as having an important role in fertility. Indeed in assisted reproductive technologies mitochondrial function is a key indicator of sperm and oocyte quality. Here, we review the literature regarding mitochondrial genetics and infertility. In many multisystem disorders caused by mitochondrial dysfunction death occurs prior to sexual maturity, or the clinical features are so severe that infertility may be underreported. Interestingly, many of the genes linked to mitochondrial dysfunction and infertility have roles in the maintenance of mitochondrial DNA or in mitochondrial translation. Studies on populations with genetically uncharacterized infertility have highlighted an association with mitochondrial DNA deletions, whether this is causative or indicative of poor functioning mitochondria requires further examination. Studies on the impact of mitochondrial DNA variants present conflicting data but highlight POLG as a particularly interesting candidate gene for both male and female infertility.

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“…Growth hormone deficiency has been described in multiple case reports and case series with MELAS [10,[49][50][51][52][53], decreased complex II activity [54], mtDNA deletion disorders [12,13,[55][56][57][58], and various mitochondrial diseases without genetic confirmation [59,60]. Growth hormone deficiency and/or short stature has also been documented in nuclear-encoded defects of mitochondrial translation, e.g.…”

Section: Short Stature and Growth Hormone Deficiencymentioning

confidence: 99%

Mitochondrial disease and endocrine dysfunction

et al. 2016

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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.

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A Case of Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes Associated With Diabetes Mellitus and Hypothalamo-Pituitary Dysfunction.

Abstract: Abstract.A

Cited by 12 publications

References 11 publications

Endocrine disorders in mitochondrial disease

Endocrine disorders in mitochondrial disease

Genetics of mitochondrial dysfunction and infertility

Mitochondrial disease and endocrine dysfunction

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