​ALS/FTD Genes Reveal Pathways to Pathology 

A paper by the lab of Yongchao C. Ma, PhD, is featured in a news release on Alzforum. Their research, conducted with colleagues at Northwestern University, debuts a new ALS gene, UBQLN4, identifying a rare genetic mutation found in a woman with familial amyotrophic lateral sclerosis (ALS). The paper, published May 2 in eLIFE, shows that the variant, when expressed in a model system, impairs function and causes abnormal sprouting and branching of motor axons. The results highlight the role of protein homeostasis in neuronal health and disease.​

Ma told Alzforum the group is now working on additional models that will enable a more thorough examination of the mutant’s impact across the lifespan. He hopes that β-catenin, an important regulator of neuronal development​, or other substrates of UBQNL4, could become useful therapeutic targets in ALS.

First author, Brittany Edens, is a graduate student in the Ma lab.