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

Michael J. Devine (), Mina Ryten, Petr Vodicka, Alison J. Thomson, Tom Burdon, Henry Houlden, Fatima Cavaleri, Masumi Nagano, Nicola J. Drummond, Jan-Willem Taanman, Anthony H. Schapira, Katrina Gwinn, John Hardy, Patrick A. Lewis and Tilo Kunath ()
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Michael J. Devine: MRC Centre for Regenerative Medicine, Institute for Stem Cell Research, University of Edinburgh
Mina Ryten: UCL Institute of Neurology
Petr Vodicka: Roslin Institute, University of Edinburgh
Alison J. Thomson: Roslin Institute, University of Edinburgh
Tom Burdon: Roslin Institute, University of Edinburgh
Henry Houlden: UCL Institute of Neurology
Fatima Cavaleri: MRC Centre for Regenerative Medicine, Institute for Stem Cell Research, University of Edinburgh
Masumi Nagano: MRC Centre for Regenerative Medicine, Institute for Stem Cell Research, University of Edinburgh
Nicola J. Drummond: MRC Centre for Regenerative Medicine, Institute for Stem Cell Research, University of Edinburgh
Jan-Willem Taanman: UCL Institute of Neurology
Anthony H. Schapira: UCL Institute of Neurology
Katrina Gwinn: Baylor College of Medicine, One Baylor Plaza
John Hardy: UCL Institute of Neurology
Patrick A. Lewis: UCL Institute of Neurology
Tilo Kunath: MRC Centre for Regenerative Medicine, Institute for Stem Cell Research, University of Edinburgh

Nature Communications, 2011, vol. 2, issue 1, 1-10

Abstract: Abstract 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 α-synuclein, causes a fully penetrant, aggressive form of Parkinson's disease with dementia. α-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 α-synuclein protein as neurons from the unaffected relative, precisely recapitulating the cause of Parkinson's disease in these individuals. This model represents a new experimental system to identify compounds that reduce levels of α-synuclein, and to investigate the mechanistic basis of neurodegeneration caused by α-synuclein dysfunction.

Date: 2011
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DOI: 10.1038/ncomms1453

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