New research continues to fill in the picture of Parkinson’s disease as a complex disorder influenced by multiple genes — the most recent finding being a genetic mutation that may be the result of biological stress.
The study is published in the American Journal of Human Genetics.
Scientists say the study offers a direct insight into how a gene can lead to death of brain cells, resulting in Parkinson’s disease and related neurodegenerative disorders.
This particular gene, EIF4G1, is unique because unlike others that have been found to cause Parkinson’s disease, it controls the levels of proteins that help a cell cope with different forms of stress, such as those routinely found in aging cells.
Given the function of this gene, the discovery opens up a new area of research within Parkinson’s disease and other neurodegenerative diseases, reports study co-author Owen Ross, Ph.D., a Mayo Clinic neuroscientist.
The insights gained from how mutations in EIF4G1 lead to cell death might assist the development of new therapies to treat or slow Parkinson’s disease.
This study began with the identification by French researchers of a large family in northern France with inherited Parkinson’s disease. Researchers discovered the EIF4G1 mutation in the French family and in other affected families in the U.S., Canada, Ireland, and Italy.
Investigators know the protein EIF4G1 helps a cell cope with stress by stimulating the production of other proteins (to help the cell manage stress).
Such stresses occur naturally as people age, and if a brain cell cannot adequately respond, it will die. That inability to adapt led to Parkinson’s disease in the families studied, said Justus C. Daechsel, Ph.D., a Mayo neuroscientist and the study’s co-lead investigator.
This is the third gene that Mayo researchers have found which causes Parkinson’s disease, according to Ross. He adds that Mayo researchers have also identified a number of genetic variants that increase a person’s risk of developing the more common sporadic late-onset form of the disease.
The Mayo experts believe that many of the genes implicated in familial Parkinson’s disease may be playing a role in the sporadic form of the disease, because as many as 20 percent of individuals with Parkinson’s report a first-degree relative with the disorder.
The investigators say this latest finding adds another piece to the complex Parkinson’s puzzle.
Source: Mayo Clinic