Acyl‑ CoA Binding Domain Containing 3(ACBD3) protein v lidských kožních fibroblastech pacientů s Huntingtonovou chorobou

English version

Autoři: H. Kratochvíľová ¹; M. Rodinova ¹; J. Sladkova ¹; J. Klempir ²; I. Liskova ^2,3; J. Motlik ³; J. Zeman ¹; H. Hansíková ¹; M. Tesarova ¹
Působiště autorů: Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic ¹; Department of Neurology and Centre of Clinical Neuroscience, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic ²; Laboratory of Cell Regeneration and Cell Plasticity, Institute of Animal Physiology and Genetics AS CR, v. v. i., Libechov, Czech Republic ³
Vyšlo v časopise: Cesk Slov Neurol N 2015; 78/111(Supplementum 2): 34-38
doi: https://doi.org/10.14735/amcsnn20152S34

Souhrn

Huntingtonova choroba (HD) je autozomálně dominantní neurodegenerativní onemocnění způsobené zvýšením počtu polyglutaminových repetic (> 35 repetic) v genu pro protein huntingtin. HD je charakteristická pomalými progresivními změnami pohybového aparátu a osobnosti, kdy tyto změny jsou často doprovázeny ztrátou tělesné hmotnosti. Do dnešního dne není znám přesný mechanizmus patofyziologie choroby. Poruchy pohybových funkcí reflektují masivní poškození specifických částí mozku (striatum), které bylo popsáno u pacientů s HD. V roce 2013 Sbodio et al [1] popsali zvýšené množství proteinu Acyl‑ CoA binding domain containing 3 (ACBD3) ve striatu HD pacientů. Protein ACBD3 hraje nezastupitelnou roli v mnoha buněčných procesech, a to především díky interakci s různými vazebnými partnery. ACBD3 je esenciální při neuronálním dělení, neurodegeneraci, udržení lipidové homeostáze, stresové odpovědi, virové replikaci, apoptóze, udržení struktury golgiho komplexu. V této práci jsme prokázali nepřítomnost proteinu ACBD3 v mitochondriích v lidských kožních fibroblastech a navíc jsme potvrdili, že změny celkové hladiny proteinu ACBD3 ve fibroblastech HD pacientů nejsou konzistentní.

Klíčová slova:
Huntingtonova choroba – Acyl-CoA binding domain containing 3 protein – lidské kožní fibroblasty – buněčná lokalizace

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