Utah University. US: 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 Popu;ation 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.