New ALS Gene Variant Identified – Genetic Engineering & Biotechnology News (press release)

Employing a zebrafish model, the investigators were able to reverse the defects caused by the UBQLN4 gene variant by inhibiting the beta-catenin signaling pathway with the drug quercetin. Importantly, these findings suggest that this pathway could be targeted for treatment. More research will be needed before a similar drug could be shown to work in people with ALS.

"At this stage, it is unclear how many people with ALS have the UBQLN4 gene variant, and this will be important to determine," noted senior study investigator Yongchao Ma, Ph.D., assistant professor of developmental-behavioral pediatrics at Northwestern University Feinberg School of Medicine. "Another important next step will be to assess whether the disease mechanism we describe is common to other forms of ALS."

As it is estimated that ALS occurs in 20,000 Americans at any given time, with over 6000 new cases diagnosed each year, these new insights open the door to potential treatment targets for ALS.

"Another intriguing aspect of our study is the molecular link we have established between ALS and spinal muscular atrophy, or SMA, which is a pediatric motor neuron disease," Ms. Edens concluded. "We see a similarity in the increase of beta-catenin, which causes defective motor neuron development. So even though the genes that cause ALS and SMA are different, they might share a common pathway that affects motor neuron structure and function."

Link:
New ALS Gene Variant Identified - Genetic Engineering & Biotechnology News (press release)