New Insights Into Causes of ALS

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.

University of Utah neurologists Dr. Stefan Pulst  and Dr. Summer Gibson 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 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 some patients. Autophagy in particular may be important for the destruction of prion-like structures that accumulate in the brains of some patients. The findings suggest a novel course of therapeutic interventions for treating the disease.

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

Their work was recently featured in a KSL-TV story: A family's hope: more time and an ALS breakthrough

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