New Insights Into Causes of ALS

New Insights Into Causes of ALS

Feb 19, 2015 9:00 AM

In the wake of the ALS ice bucket challenge, scientists have made important progress on discovering causes of ALS, amyotrophic lateral sclerosis also known as Lou Gehrig’s disease. Patients with the progressive neurodegenerative disease lose muscle movement, many become totally paralyzed, and all die of the disease, typically within three years following the onset of symptoms. Because little is known about how the disease arises, there are no targeted therapies that slow or halt the disease.

Stefan Pulst, M.D., professor and chair of the Department of Neurology at the University of Utah School of Medicine and Summer Gibson, M.D., assistant professor of neurology, are authors on a collaborative, multi-institutional study published in the journal Science. The research identifies mutations in a gene, TBK1, as contributing to ALS.

"This discovery of TBK1 adds to the growing list of genes implicated in ALS," explains Gibson. "This is particularly important because TBK1 is involved in the same natural immunity and autophagy pathways as are two other previously identified ALS genes, optineurin (OPTN) and p62 (SQSTM1/sequestosome)."

Taken together with previous findings, the discovery highlights defects in specific biological pathways – autophagy and inflammation - as key players in development of the disease in at least one percent of patients. Autophagy in particular may be important for the destruction of prion-like structures that accumulate in the brains of some with ALS.

The Department of Neurology at the University of Utah with its emphasis on personalized medicine, biosampling, and use of a state-wide population database, the Utah Population Database, has focused its efforts on neurodegenerative diseases. Participation in this multi-center effort has resulted in one of the largest genome-wide resequencing efforts for neurological diseases using state-of-the-art technology.

"This study emphasizes the need for multi-disciplinary collaboration across a large number of institutions," says Pulst. "Identification of novel pathways involved in Lou Gehrig disease will hopefully lead to novel therapeutic approaches for this devastating disease."

Pulst and Gibson are continuing their ALS research in collaboration with the Utah Genome Project. Read more about their research.

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Media Contacts

Julie Kiefer
Manager, Science Communications , University of Utah Health Sciences Office of Public Affairs
Phone: 801-587-1293
Cell Phone: 801-597-4258
Email: jkiefer@neuro.utah.edu

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