Genetic Mutation: A Possible Cause of Parkinson’s disease

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International researchers have identified that genetic mutation that result from biological stress of brain cells lead to an inherited cause of Parkinson’s disease. This study was also published in the American Journal of Human Genetics’ September issue. Neuroscientists from the Mayo Clinic’s campus in Florida helped lead the investigation. As of this moment, there is only a small number of families that have been identified to have this form of inherited Parkinson’s disease. Scientists involved in this study offers an insight as to how the gene EIF4G1 can result to brain cell death and subsequently PD, and other neurodegenerative disorders like dementia and Alzheimer’s disease.

Unlike other genes in the body, this certain Parkinson’s disease related gene is unique because it controls the cells ability to cope with stress, like those proteins found in aging cells, says Justus Dachsel, a co-lead investigator of the study. With this discovery, new areas of research may be opened. Studies involving how these genetic mutations may be controlled will be very essential in the prevention or slowing down of the progress of Parkinson’s disease.

The study was commenced with a French family with inherited Parkinson’s disease. The researchers discovered that members of this family have the mutated gene EIF4G1 in their DNA, like several other families in the US, Canada, Ireland and Italy who also have inherited PD.

“Much is already known about the protein, EIF4G1. For example, when a cell is undergoing stress the EIF4G1 protein helps initiate the production of other proteins to help the cell cope. 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,” Dr. Dachsel says.

To date, this is the third type of gene that Mayo Clinic researchers have discovered as for the possible genetic causes of PD. Apart from these mutations, Mayo Clinic researchers have also identified other genetic variants which lead to an increased risk of the common type of PD which is sporadic and late-onset.

According to Parkinson’s Disease Foundation:

-          As many as one million Americans live with Parkinson’s disease, which is more than the combined number of people diagnosed with multiple sclerosis, muscular dystrophy and Lou Gehrig’s disease.

-          Approximately 60,000 Americans are diagnosed with Parkinson’s disease each year, and this number does not reflect the thousands of cases that go undetected.

-          An estimated seven to 10 million people worldwide are living with Parkinson’s disease.

-          Incidence of Parkinson’s increases with age, but an estimated four percent of people with PD are diagnosed before the age of 50.

-          Men are one and a half times more likely to have Parkinson’s than women.

And in terms of the costs of this disease, the combined direct and indirect cost of Parkinson’s, including treatment, social security payments and lost income from inability to work, is estimated to be nearly $25 billion per year in the United States alone. Medication costs for an individual person with PD average $2,500 a year, and therapeutic surgery can cost up to $100,000 dollars per patient.




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