(RxWiki News) Scientists have long known that Parkinson's disease is caused by cell death. Pinpointing the exact cause, however, hasn't been an easy task. A genetic discovery may help with the puzzle.
A new gene mutation believed to cause Parkinson's disease has been found using DNA sequencing technology. The study was published in the the American Journal of Human Genetics.
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Dr. Zbigniew Wszolek, co-author of the study and a Mayo Clinic neuroscientist, said the discovery in a large Swiss family with Parkinson's marks an exciting new discovery in research of the disease. He noted that each new gene linked to Parkinson's that is identified provides new avenues to understand the complex disease and find ways to manage it.
Investigators found that mutations in VPS35, a protein responsible for recycling other proteins within cells, was the cause of Parkinson's in the Swiss family studied. It is suspected that when the gene mutates, it may impair the cell's ability to recycle proteins. This can lead to a buildup of protein in the brains of those with Parkinson's, and other diseases such as Alzheimer's disease.
Previous research has shown that expression of this gene is reduced in Alzheimer's patients, and that the inability to recycle enough protein within cells is linked to neurodegenerative diseases.
This marks the sixth discovered gene mutation linked to hereditary forms of Parkinson's.
Researchers found the mutation through a genetic sequencing technique called exome sequencing. They searched for shared variations in a pair of first cousins within the large family affected by Parkinson's.
Exons provide the genetic blueprint in protein production. It is easier to search for them because they make up only 1 percent of the entire genome. In this instance, the possible variations were far reduced since cousins only share about 10 percent of the same genome. Changes in the protein sequence can signify disease-causing mutations.