A KEY barrier to understanding the causes of Parkinson's disease is a lack of living, diseased brain tissue to study. This may now be overcome by using skin cells to model brain degeneration.
Michael Devine and colleagues at University College London took skin cells from a person with a rare type of the disease and a healthy relative, turned them into stem cells and reprogrammed them to become brain cells.
People with this type of Parkinson's have extra copies of the SNCA gene, which makes a protein called a-synuclein. Overproduction of this protein has been associated with brain cell death. Devine's team found the reprogrammed cells from the person with Parkinson's had twice the number of SNCA genes and double the amount of the protein (Nature Communications, DOI: 10.1038/ncomms1453).
This mimics what happens to those with this type of Parkinson's, in whom a doubling of a-synuclein is seen in brain tissue at post-mortem. Devine says a-synuclein is increasingly believed to be involved in more common types of the disease too, so the work should be more widely relevant. He now wants to use the model to investigate why too much of this protein causes brain cells to die off.
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