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Gene Discovery
Researchers at Fulton ALS Center are part of an international team that identifies the cause of some cases of familial ALS

Barrow ALS researchers, led by Robert Bowser, PhD, are part of an international team that discovered a new gene mutation associated with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease. The discovery that mutations in the Matrin 3 gene cause some cases of familial ALS is expected to open the door to new therapies for this neurodegenerative disease, which kills motor neurons, causing weakness and paralysis. ALS is fatal.

The research was reported in the June edition of the prestigious professional journal Nature Neuroscience. Ashley Boehringer, a second-year student in the Barrow-Arizona State University PhD program, was one of three co-first authors of the article about the discovery.

“It’s a new gene associated with ALS, and by studying what that gene does, we hope to gain more insight into the mechanisms of the disease,” said Bowser, who is the research director and the John and Betty VanDenburgh Chair in Neuromuscular Disease at the Gregory W. Fulton ALS and Neuromuscular Disorders Center at Barrow.

The Fulton ALS Center was one of four major participants in the research. Other investigators were located at Cleveland Clinic, National Institutes of Health and University of Turin in Italy. The group studied four families from various parts of the world—two from the United States, one from the United Kingdom and one from Italy—and confirmed that the mutant Matrin 3 gene is the common denominator for all individuals with inherited ALS in those families.

According to Bowser, about 10-15 percent of people with ALS have the inherited form of the disease. The gene mutations that cause about 60 percent of those cases have been discovered, leaving about 40 percent still unknown. The discovery that mutations in the Matrin 3 gene cause some cases of familial ALS provides another piece of the ALS puzzle.

The Matrin 3 gene joins over 20 other genes associated with familial ALS. The first of those genes, SOD1, was identified in the early 1990s before the human genome was mapped. “Every gene we find takes us a step closer to uncovering why people develop this dreaded disease,” Bowser says.

Bowser explains that Matrin 3 functions to help regulate RNA metabolism, a key process that regulates how proteins are made in every cell of our body. ALS researchers are working to determine which pathways are involved in causing the death of motor neurons in ALS. Understanding this process will lead to new therapeutic avenues and new drug targets, Bowser adds.

Going forward, Barrow’s research into the Matrin 3 mutation will focus on understanding the protein’s normal function and what is altered during ALS. This research will form the basis of Boehringer’s doctoral dissertation, a project that the 24-year-old woman from Ahwatukee Foothills expects will take another three years to complete.

“ALS is a disease that has no effective treatment,” says Boehringer. “It’s a research area that is wide open to discovery. It is a great opportunity for me.”

 

 

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