The role of mitochondria in pathogenesis of Huntington´s disease
Authors:
M. Marková; H. Hansíková
Authors place of work:
Laboratoř pro studium mitochondriálních poruch, Klinika dětského a dorostového lékařství, 1. lékařská fakulta Univerzity Karlovy v Praze a Všeobecná fakultní nemocnice v Praze
Published in the journal:
Klin. Biochem. Metab., 24, 2016, No. 1, p. 27-31
Summary
Huntington´s disease (HD) is an inherited neurodegenerative disease caused by an extended portion of CAG repeats induced higher number of repetitions in the first exon of the gene for huntingtin (Htt), which leads to changes in function of the protein. Most marked neuropathological manifestation of the disease is the loss of striatal neurons. The exact mechanisms responsible for neuronal death have not yet been sufficiently explained. In recent years increasing number of scientific studies that point out that this process plays important role in disruption of mitochondrial function and related impaired energy metabolism. This review is focused to the most striking mitochondrial defects caused by influence of mutated form of huntingtin. Broad spectrum of changes in mitochondrial function includes disruption of mitochondrial biogenesis, mitochondrial Ca2+ homeostasis, increased oxidative stress, changes in mitochondrial dynamics and many other processes. The combination of these aspects seems to contribute to the death of striatal neurons in HD.
Keywords:
mitochondria, oxidative phosphorylation system, Huntington’s disease, huntingtin.
Zdroje
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Štítky
Clinical biochemistry Nuclear medicine Nutritive therapistČlánok vyšiel v časopise
Clinical Biochemistry and Metabolism
2016 Číslo 1
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