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Genes or Environment? Both.

With millions of people worldwide diagnosed with Parkinson’s disease, others can’t help but wonder: Could that be me? And do my genes put me at risk — or is environment more important?

Both considerations make a difference, says Sheila Fleming, Ph.D., an assistant professor of pharmaceutical science whose lab in the Neurodegenerative Disease and Aging research focus area focuses on Parkinson’s disease. Aging, genetics and environmental exposures such as metals, pesticides and solvents are all recognized as risk factors for developing Parkinson’s.

In fact, “It is generally considered that the majority of cases are caused by a combination of genetic susceptibility and environmental factors,” says Dr. Fleming. Because of this, and because Parkinson’s disease is the most common neurodegenerative movement disorder, identifying the genetic and environmental interactions that cause the disease is a high priority for researchers in the field.

A key role for the ATP13A2 gene

One particular gene – ATP13A2 – has been associated with the disease.

Scientists refer to certain genetic alterations that result in reduced or altered protein function as “loss of function” mutations. (In this case, the word function refers to how the protein works, not to the larger meaning of the word – such as the motor functions that are often diminished in Parkinson’s patients.) Such mutations in ATP13A2  are associated not only with Parkinson’s but also with several other neurodegenerative conditions.

Scientists haven’t yet pinned down exactly how impaired ATP13A2 function causes neurodegeneration.

Supported by a five-year, $1.6 million grant from the National Institute of Environmental Health Sciences at the National Institutes of Health, Dr. Fleming will now seek to determine just that. Her lab will investigate how the ATP13A2 gene interacts with environmental and genetic factors linked to Parkinson’s disease, looking into how those interactions  lead to neurodegeneration and behavioral impairments.

Dr. Fleming explains, “My lab will work to understand how cells can become vulnerable to environmental insults that lead to neurodegeneration. With that knowledge, we can help to identity opportunities for therapeutic intervention and treatment.”