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000163395 041__ $$aEnglish
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000163395 1001_ $$0P:(DE-2719)2810704$$aKlopstock, Thomas$$b0$$eFirst author$$udzne
000163395 245__ $$aMitochondrial Disorders.
000163395 260__ $$aKöln$$bDt. Ärzte-Verl.$$c2021
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000163395 520__ $$aMitochondrial disorders are among the most common heritable diseases, with an overall lifetime risk of approximately one in 1500. Nonetheless, their diagnosis is often missed because of their extreme phenotypic and genotypic heterogeneity.This review is based on publications retrieved by a selective literature search on the clinical features, genetics, pathogenesis, diagnosis, and treatment of mitochondrial diseases.Pathogenic defects of energy metabolism have been described to date in over 400 genes. Only a small number of these genes lie in the mitochondrial DNA; the corresponding diseases are either maternally inherited or of sporadic distribution. The remaining disease-associated genes are coded in nuclear DNA and cause diseases that are inherited according to Mendelian rules, mostly autosomal recessive. The most severely involved organs are generally those with the highest energy requirements, including the brain, the sensory epithelia, and the extraocular, cardiac, and skeletal musculature. Typical manifestations include epileptic seizures, stroke-like episodes, hearing loss, retinopathy, external ophthalmoparesis, exercise intolerance, and diabetes mellitus. More than two manifestations of these types should arouse suspicion of a disease of energy metabolism. The severity of mitochondrial disorders ranges from very severe disease, already evident in childhood, to relatively mild disease arising in late adulthood. The diagnosis is usually confirmed with molecular-genetic methods. Symptomatic treatment can improve patients' quality of life. The only disease-modifying treatment that has been approved to date is idebenone for the treatment of Leber hereditary optic neuropathy. Intravitreal gene therapy has also been developed for the treatment of this disease; its approval by the European Medicines Agency is pending.Patients with mitochondrial diseases have highly varied manifestations and can thus present to physicians in practically any branch of medicine. A correct diagnosis is the prerequisite for genetic counseling and for the initiation of personalized treatment.
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000163395 650_7 $$2NLM Chemicals$$aDNA, Mitochondrial
000163395 650_2 $$2MeSH$$aAdult
000163395 650_2 $$2MeSH$$aDNA, Mitochondrial: genetics
000163395 650_2 $$2MeSH$$aHumans
000163395 650_2 $$2MeSH$$aMitochondrial Diseases: diagnosis
000163395 650_2 $$2MeSH$$aMitochondrial Diseases: genetics
000163395 650_2 $$2MeSH$$aMitochondrial Diseases: therapy
000163395 650_2 $$2MeSH$$aOptic Atrophy, Hereditary, Leber
000163395 650_2 $$2MeSH$$aQuality of Life
000163395 7001_ $$aPriglinger, Claudia$$b1
000163395 7001_ $$aYilmaz, Ali$$b2
000163395 7001_ $$aKornblum, Cornelia$$b3
000163395 7001_ $$aDistelmaier, Felix$$b4
000163395 7001_ $$aProkisch, Holger$$b5
000163395 773__ $$0PERI:(DE-600)2406159-1$$a10.3238/arztebl.m2021.0251$$gVol. 118, no. 44$$n44$$p741-748$$tDeutsches Ärzteblatt international$$v118$$x1866-0452$$y2021
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000163395 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2810704$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b0$$kDZNE
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