Study gives genetic clues to Parkinson's disease

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Washington, March 21 : Researchers at Rhode Island Hospital and The Warren Alpert Medical School of Brown University say that a gene known as GIGYF2 may hold the key to developing new treatments for Parkinson's disease, a progressive and often debilitating movement disorder.

In a study report, published online in the American Journal of Human Genetics, the researchers say that mutations in this gene seem to be directly linked with the development of Parkinson's in people who have a family history of the disease.

The researchers believe that studying this gene may provide new treatments for the more common and sporadic forms of the disease.

"These findings may ultimately help open the door to the development of new therapeutic - and possibly even preventive - strategies that target the underlying cause of Parkinson's disease, improving the quality of life of the many people worldwide who are affected by this devastating disorder," said senior author Dr. Robert J. Smith, director of the division of endocrinology and the Hallett Center for Diabetes and Endocrinology at Rhode Island Hospital and professor of medicine at Alpert Medical School.

The new research also seems to suggest a possible association between Parkinson's and insulin and the related hormone known as insulin-like growth factor (IGF).

Dr. Smith revealed that GIGYF2 was initially identified nearly five years ago because of its potential involvement in IGF and insulin signaling systems, but its association with Parkinson's was not explored then.

In the instant study, the researchers examined where GIGYF2 is located on the human genome in hopes of learning more about the gene's function.

The group found that it is right in the center of a chromosomal region linked to Parkinson's.

According to the researchers, GIGYF2 specifically appears to on a region that was initially identified through a genetic analysis of families with Parkinson's disease, called PARK11.

The researchers studied DNA samples of patients who had Parkinson's and at least one first-degree relative (parent, child or sibling) with the disease, which included 123 Italian patients and 126 French patients. They also studied DNA from more than 200 unrelated healthy controls from both countries.

Following gene sequencing and mutation analysis, they identified seven different forms of GIGYF2 mutations occurring in 12 different people, approximately five percent of those in the study.

The researchers say that their relatives with Parkinson's also carried the same mutation, which led to single amino acid substitutions in the protein encoded by the GIGYF2 gene. They, however, did nto observe any of the mutations in the healthy controls.

Our data provides strong support for GIGYF2 as a PARK11 gene with a causal role in familial Parkinson's disease. The next step is to zero in on this gene to learn more about its involvement in triggering Parkinson's. It will also be important to evaluate additional and larger families with Parkinson's and these genetic mutations, as well as the frequency of GIGYF2 mutations in patients with the more common, idiopathic form of the disease," said Smith.

ANI

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