Mayo Researchers Report Possible Link Between Higher Risk of Parkinson’s and Variants in 3 Genes


Mayo Clinic researchers reported at the American Academy of Neurology meeting in San Diego the discovery of a possible link between an increased risk for Parkinson’s disease and variants in three genes that decrease estrogen in women.

“We and other investigators have found evidence that estrogen helps protect women from developing Parkinson’s,” said Dr. Walter Rocca. “So, a gene variant that would decrease estrogen production or activity would put those women at greater risk for the disease.”

The study — conducted using a database from a previous study of the entire human genome for genes connected to Parkinson’s — linked development of Parkinson’s to variants in the estrogen receptor 1 gene (ESR1); the estrogen receptor 2 gene (ESR2); and PR domain-containing protein 2 gene (PRDM2).

“The gene variants are not a defect or a problem in and of themselves,” said Rocca. “They are part of human differences, simply differences across people, like being slim, short or blue-eyed.

“These differences make one subgroup of the population more susceptible to a disease like Parkinson’s. However, sometimes the genetic variant is a weak risk factor, and the disease only manifests if another risk factor is present, such as a particular diet, physical exercise, taking certain medications or a medical event,” Rocca said.

“If the findings of this study are replicated and confirmed, the hope is to use these variants to predict the risk of disease using a simple blood test,” said Rocca.

The test would be particularly useful for women and their physicians before deciding to electively conduct surgical removal of the ovaries, because a combination of estrogen-reducing factors could amplify a woman’s risk for Parkinson’s, Rocca added.