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New Piece Found in Parkinson’s Genetic Puzzle

New Genetic Tie to ParkinsonsNew 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

New Piece Found in Parkinson’s Genetic Puzzle

Rick Nauert PhD

Rick Nauert, PhDDr. Rick Nauert has over 25 years experience in clinical, administrative and academic healthcare. He is currently an associate professor for Rocky Mountain University of Health Professionals doctoral program in health promotion and wellness. Dr. Nauert began his career as a clinical physical therapist and served as a regional manager for a publicly traded multidisciplinary rehabilitation agency for 12 years. He has masters degrees in health-fitness management and healthcare administration and a doctoral degree from The University of Texas at Austin focused on health care informatics, health administration, health education and health policy. His research efforts included the area of telehealth with a specialty in disease management.

APA Reference
Nauert PhD, R. (2018). New Piece Found in Parkinson’s Genetic Puzzle. Psych Central. Retrieved on September 25, 2020, from
Scientifically Reviewed
Last updated: 8 Aug 2018 (Originally: 12 Sep 2011)
Last reviewed: By a member of our scientific advisory board on 8 Aug 2018
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