Genetic mutation may cause Parkinsons disease: study
U.S. researchers have uncovered a link between genetic mutation and Parkinson's disease, according to a study available here on Saturday.
The study, published in the latest issue of The Journal of Neuroscience, said that the researchers at the Mount Sinai School of Medicine made the discovery in experiments using genetically engineered mice.
The mutation eliminates the normal function of a gene called LRRK2, resulting in inherited (familial) Parkinson's, the most common form of the disease, according to the researchers.
LRRK2 regulates the transmission of dopamine, a neurotransmitter, and controls motor performance.
The mice created and used by the researchers feature a key element of Parkinson's disease -- age-dependent reduction of dopamine -- which is believed to cause the motor function problems, such as tremors, rigidity, and involuntary movement experienced by people with Parkinson's.
"While the mice are not at the stage where they experience the typical symptoms of Parkinson's, like tremors or reduced movement, we are able to study the potential root cause of the disease in these mice," said Zhenyu Yue, an associate professor of neurology and neuroscience at the center.
"Importantly, as we have developed assays that allow us to measure the enzymatic activity of LRRK2 in the brain, the mouse models provide valuable tools in the preclinical development of drug compounds that target aberrant LRRK2 activity. This research may translate to non-familial Parkinson's disease as well," Yue added.