Kiskinis Lab discovers cellular mechanisms behind genetic mutation in ALS

SQI faculty member Evangelos Kiskinis and colleagues recently discovered the mechanisms and consequences of a defect in the gene known as C9orf72, which is responsible for a large proportion of amyotrophic lateral sclerosis (ALS) cases. The study was published online Feb. 13 in the journal Neuron.

The researchers viewed healthy and diseased neurons using fluorescence microscopy and found that nuclear envelopes within ALS cells were full of narrow tunnels, Kiskinis told the Allen Institute for Cell Science, which provided gene-edited human stem cells for the project.

Kiskinis and colleagues discovered that specific proteins accumulate within these wrinkles and play a major role in the pathophysiology of the degenerative disease.

“Targeting this pathway pharmacologically could be a rational therapeutic approach for ALS patients,” Kiskinis said in a press release from the Les Turner ALS Foundation, which provided seed funding for his lab to begin studying the disease. “We are currently focused on exploring this pathway further and determining our ability to effectively manipulate it.”

Kiskinis describes the research below in a video produced by the Allen Institute.