Acyl CoA Binding Domain Containing 3 (ACBD3) Protein in Huntington’s Disease 
Human Skin Fibroblasts

0452790 - ÚŽFG 2016 RIV CZ eng J - Článek v odborném periodiku
Kratochvílová, H. - Rodinová, M. - Sládková, J. - Klempíř, J. - Lišková, Irena - Motlík, Jan - Zeman, J. - Hansíková, H. - Tesařová, M.
Acyl CoA Binding Domain Containing 3 (ACBD3) Protein in Huntington’s Disease 
Human Skin Fibroblasts.
Česká a Slovenská neurologie a neurochirurgie. Roč. 78, Suppl. 2 (2015), s. 34-38. ISSN 1210-7859. E-ISSN 1802-4041.
[Conference on Animal Models for neurodegenerative Diseases /3./. Liblice, 08.11.2015-10.11.2015]
Grant CEP: GA MŠMT ED2.1.00/03.0124
Institucionální podpora: RVO:67985904
Klíčová slova: Huntington’s disease * Acyl-CoA binding domain containing 3 protein * human skin fibroblasts
Kód oboru RIV: FH - Neurologie, neurochirurgie, neurovědy
Impakt faktor: 0.209, rok: 2015

Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease caused by the expansion of polyglutamine repeats (> 35 repeats) in the nuclear gene for the huntingtin protein. HD is characterized by slow progressive changes in motor behaviour and personality that are sometimes accompanied by weight loss. To date, the exact mechanisms of HD pathophysiology have not been defined. Impaired motor behaviour reflecting massive and selective destruction of the striatum has been observed in patients with HD. Sbodio et al. [1] reported in 2013 that Acyl  CoA binding domain containing 3 (ACBD3) protein levels were elevated in the striatum of HD patients and connected with higher neurotoxicity in HD. The ACBD3 protein plays essential roles in many different cellular functions via interactions with a multitude of partners. ACBD3 is involved in neuronal stem cell self renewal, neurodegeneration, lipid homeostasis, stress resistance, intracellular vesicle trafficking, organelle maintenance, viral replication and the apoptotic response. Herein, we found that ACBD3 in not present in the mitochondria in skin fibroblasts. Moreover, our findings also revealed that the total cellular level of ACBD3 is not consistent among the fibroblasts of HD patients.
Trvalý link: http://hdl.handle.net/11104/0253763