Non-Familial Parkinson's Cause And Treatment Clue Found In Three Genes

Featured Article Academic Journal Main Category: Parkinson's Disease Also Included In: Genetics;Biology / Biochemistry;Alzheimer's / Dementia Article Date: 07 Feb 2013 - 3:00 PST

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The researchers, from Columbia University Medical Center (CUMC) in New York, write about their findings in the 6 February issue of Neuron.

Most people with Parkinson's disease have the sporadic, non-familial form of the disease, with a small proportion having familial Parkinson's, or the form that can be attributed to known genetic factors.

The defect is in a pathway known as the "retromer" pathway, because it guides the recycling of key proteins by moving them back from the surface of the cell to its internal stores.

The researchers found that defects in this pathway may disrupt the ability of cells to dispose of unwanted proteins, which may explain why brain cells of people with Parkinson's accumulate clumps of protein.

They suggest the defects can be reversed by increasing pathway activity, offering a possible route to treatment. There are currently no treatments that alter progression of Parkinson's.

They also found evidence that the molecular changes behind the defects in the retromer pathways are present in people without Parkinson's but who carry gene variants linked to increase risk of the disease.

They suggest this supports the idea that early treatment will be an important approach to tackling the disease.

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Non-Familial Parkinson's Cause And Treatment Clue Found In Three Genes