Human Cell models of genetic risk for Parkinson's disease
Research type
Research Study
Full title
iPS cell lines from people at genetic risk of Parkinson's disease
IRAS ID
141394
Contact name
Clive Ballard
Contact email
Duration of Study in the UK
1 years, 0 months, 1 days
Research summary
Parkinson’s disease (PD), the second most common neurodegenerative disease after Alzheimer’s disease, is characterized by motor symptoms such as tremor, rigidity and bradykinesia, in combination with autonomic dysfunction, psychiatric symptoms and a high risk of developing dementia. Current pharmacological treatments provide symptomatic treatment of the motor symptoms of PD, but do not modify the underlying disease and do not halt the ongoing cell loss. Therefore it is vital that we improve our current understanding of the mechanisms involved in neurodegeneration in PD, so that we can design more effective therapies that target the core disease processes.
Genetics are thought to play a key role in the risk of developing Parkinson’s disease. Specifically, genetic variation in four genes (alpha-synuclein, GBA1, LRRK2 and TFAM) has been associated with an increased risk of developing PD. We are beginning to understand how this variation alters the way cells function, but further work is needed to identify treatment targets.
New Nobel Prize-winning technology in the stem cell field now allows researchers to collect skin cells from the root of scalp hair and convert them into stem cells in the laboratory. These stem cells can be converted into any cell type found in the body. Importantly, they retain any genetic changes carried by the donor.
Thus, in our study we will convert skin cells from people with PD into stem cells and then into nerve cells (which are the cells affected in PD). We will compare samples from people with PD who carry the genetic risk variants to those from people with PD who do not carry the risk variants. This analysis will help us to determine what impact the aforementioned genetic variation has on their function to help us identify targets for the development of new drugs.
REC name
Yorkshire & The Humber - Bradford Leeds Research Ethics Committee
REC reference
15/YH/0230
Date of REC Opinion
13 May 2015
REC opinion
Favourable Opinion