Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus

0372171 - ÚŽFG 2012 RIV GB eng J - Journal Article
Devine, M.J. - Ryten, M. - Vodička, Petr - Thomson, A.J. - Burdon, T. - Houlden, H. - Cavaleri, F. - Nagano, M. - Drummond, N.J. - Taanman, J.W. - Schapira, A.H. - Gwinn, K. - Hardy, J. - Lewis, P.A. - Kunath, T.
Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus.
Nature Communications. Roč. 2, č. 440 (2011), s. 1-1. E-ISSN 2041-1723
Institutional research plan: CEZ:AV0Z50450515
Keywords : gene duplication * dementia * association
Subject RIV: FH - Neurology
Impact factor: 7.396, year: 2011

A major barrier to research on Parkinson's disease is inaccessibility of diseased tissue for study. One solution is to derive induced pluripotent stem cells from patients and differentiate them into neurons affected by disease. Triplication of SNCA, encoding alpha-synuclein, causes a fully penetrant, aggressive form of Parkinson's disease with dementia. alpha-Synuclein dysfunction is the critical pathogenic event in Parkinson's disease, multiple system atrophy and dementia with Lewy bodies. Here we produce multiple induced pluripotent stem cell lines from an SNCA triplication patient and an unaffected first-degree relative. When these cells are differentiated into midbrain dopaminergic neurons, those from the patient produce double the amount of alpha-synuclein protein as neurons from the unaffected relative, precisely recapitulating the cause of Parkinson's disease in these individuals.
Permanent Link: http://hdl.handle.net/11104/0205547