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(Ivanhoe Newswire) -- Scientists have discovered a genetic defect that may help explain the cause of many neurodegenerative disorders, including Parkinson's disease.
Researchers studies eight families worldwide to uncover the genetic defect that causes depression and parkinsonism in a disorder called Perry syndrome. Sufferers of the disease experience depression, stiffness, severe weight loss, and difficulty breathing. Symptoms of the fatal and rapidly progressing disease usually occur in the mid-40s.
Those with Perry syndrome have mutations in a genetic area essential to the movement of molecular "cargo" inside brain cells. The mutations were forced along a "train" that basically couldn't stop.
Such a finding is crucial to understanding other neurodegenerative diseases, experts say. It suggests a break down among cell's transportation grid may be the cause of underlying neurodegeneration.
Comprehending why some neurons are vulnerable to disease and brain disorders while others are not is one of the greatest mysteries in neuroscience, says Matthew Farrer, Ph.D., a professor of neuroscience at Mayo Clinic. "These findings suggest that trafficking of specific cargoes inside brain cells may be a general problem in a variety of neurodegenerative diseases, depression, and other disorders," Dr. Farrer, Ph.D., neuroscience professor at Mayo Clinic, was quoted as saying.
The discovery of mutations in Perry syndrome has allowed researchers to shed light on depression, metabolic syndromes, sleep deprivation and even Alzheimer's disease.
Source: Nature Genetics, published online January 11, 2009

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