Wednesday, February 8, 2012

Gene variant found that protects against Parkinson's

Parkinson's disease is a devastating disorder of the brain, which induces tremors and muscle disability followed by cognitive problems. Various attempts are being made to cure the disease. So far, we only have some experimental therapies, which still leaves many people suffering from it. In an attempt to come up with a new idea to cure or prevent the disease, scientists from the University of Alabama have discovered that a certain variant of a certain gene prevents the brain damage that is associated with parkinson's. They discovered how this particular gene variant works, which may help us base a new therapy on it.

The gene in question is dubbed VPS41, and appears to play an important role in the brain. In parkinson's, a specific subset of brain cells, called dopaminergic neurons, die, leading to typical movement disorders. This is because of a specific protein that maliciously accumulates inside the cells, which cause them to die. VPS41 seems to be involved in this process, as scientists have found that a specific version of the gene protects neurons from dying.
A dopaminergic neuron
Although the variant that is protective in parkinson's has been discovered, it does not help us much if only a small subset of the population possesses it. We need to know what it is that makes the VPS41 variant so effective in preventing the death of brain cells. It may also tell us something who is at risk, and who is likely to be protected against parkinson's.

Clinical relevance
We may be able to modify the VPS41 gene in prospective patients to prevent neurons from dying. That would require genetic engineering, but perhaps it is enough to unravel what the product of the gene, which is a protein, looks like. That can be used as a therapeutic to prevent further deterioration of brain functions. The mechanism does not allow for repairs, however; once a brain cell is dead, it is impossible to revive it. But perhaps a recently developed stem cell therapy can be used to restore functionality. 

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