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Variants in three estrogen-related genes linked to Parkinson's disease in
women

Researchers at Mayo Clinic have discovered a possible connection between
increased risk for Parkinson's disease and variants in three genes that
control estrogen production and activity in the body.

 " We and other investigators have found evidence that estrogen helps protect
women from developing Parkinson's," says Walter Rocca, at Mayo Clinic and
lead study investigator. " So, a gene variant that would decrease estrogen
production or activity would put those women at greater risk for the
disease."

 The study associated variants in the following three genes with development
of Parkinson's: estrogen receptor 1 gene ( ESR1 ); 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 --
they are part of human differences, simply differences across people," says
Rocca. " 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."

 The study was conducted using a database from a previous study of the entire
human genome for genes linked to Parkinson's. For the new study, the Mayo
Clinic investigators examined several genes for variants in 172 women who had
Parkinson's and 229 women who did not have the disease.

 Rocca explains that some genetic variants the study pinpointed for
association with Parkinson's are quite common, affecting 10 to 20 percent of
the female population. As women are not routinely tested for these gene
variations, however, those affected would be unaware, he says.

 " 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,"
says Rocca. He explains that the test would be particularly useful for women
and their physicians before deciding to conduct an elective ovariectomy,
surgical removal of the ovaries, because a combination of estrogen-reducing
factors could amplify a woman's risk for Parkinson's.

 Source: Mayo Clinic, 2006

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