C9orf72 Repeats May Predict Genetic Predisposition To ALS

Though there has been progress made in the fight against ALS (amyotrophic lateral sclerosis), otherwise known as Lou Gehrig's disease, researchers are continually learning more about the rare illness, and how to properly manage the progressive symptoms.

New findings published in The American Journal of Human Genetics followed three generations of a single family, examining a common mutation associated with the disease, C9orf72. While it's unknown whether or not it repeats, a way to predict if the number of repeats increase to the damaging range is the addition of methyl groups to the repeats, which modifies the DNA, shutting off production of C9orf72.

The grandparents and parents in the family were healthy. However, four of the five adult children dealt with repeat methylation, as a result of a mutation in the C9orf72 gene responsible for ALS.

While the cause of ALS is unknown in roughly 90 percent of patients, researchers believe that about 10 percent is genetic. And from this study, they found that a high number of unmethylated repeats had something to do with whether or not an individual would be affected by the health issue. For instance, though the father in the family had 70 unmethylated repeats, it was not sufficient enough to result in ALS. His children, on the other hand, had over 1,000.

"With further research, we may be able to use this information to develop a genetic test that can identify if parents are likely to pass a mutation that may cause ALS in their offspring," Lorne Zinman of the U of T Division of Neurology, in a news release, who is also an associate scientist at Sunnybrook Research Institute and a staff neurologist at Sunnybrook Health Sciences Centre.

With future studies, researchers hope to learn how a range of C9orf72 repats may predict a genetic predisposition to ALS in children.

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