Genetics
Illustration Photo by Ayala Tal
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Tali Meir
Sourasky Medical Center. Photo by Tali Meir

A joint study by researchers from Tel Aviv's Sourasky Medical Center and the University of Massachusetts Medical School has identified a gene mutation that is liable to cause amyotrophic lateral sclerosis (ALS ), also known as Lou Gehrig's disease. ALS is characterized by muscular degeneration and affects 100,000 people annually.

The mutation in the gene known as profilin 1, or PNF1 for short, and other genetic discoveries in recent years enable better diagnosis of the mechanism that causes damage to nerve cells, which later leads to the incurable disease. For 10 percent of patients, ALS is a familial disease, but among half of them it is not known which gene explains its eruption.

The study published this week in the scientific journal Nature made use of an advanced technology based on biotechnical methods for analysis of the complete genome, comparing genome segments among different people. The researchers compared two families afflicted with genetically transmitted ALS, one from Israel and the other from Italy. At this stage four different mutations of the PNF1 gene associated with ALS were identified.

Subsequently the scientists looked for the gene mutation in a database of 274 additional families from around the world with genetically transmitted ALS, and found that the mutations appeared only in a few additional cases, indicating that they are not common. At this stage of the study two additional mutations of the same gene were found among the families that were examined.

The breakthrough in the research was made possible thanks to an identification in the laboratory of a mechanism by means of which the gene affects the risk of developing ALS. It was found that PLN1 is linked to the protein essential for maintaining the proper structure of the sub-cellular skeleton in the body's nerve cells. The genetic mutations documented in the study caused the production of a faulty protein, which causes damage in the sub-cellular skeleton and subsequently the degeneration of nerve cells and the eruption of muscular degeneration.

According to Prof. Vivian Drory, a member of the research team and the head of neuromuscular service at Sourasky's department of neurology: "This is an important scientific discovery, which clearly proves the connection between the genetic defect and the degenerative process in the nerve cells. We can conclude that this generic defect and the protein we discovered by means of it have a key role in the onset of the disease."

The identification of the mutation will affect a family in which it is discovered. "It will be possible," says Drory, "to prevent the transmission of the gene to future generations by methods of pre-implantation genetic diagnosis and to affect the continued transmission of the disease within the family."

In the long term the newly discovered mutation could contribute to the discovery of the mechanism of the disease and to the development of effective drugs against the mechanism by means of which the mutation acts.