A team of researchers has identified a new gene in Lou Gehrig's disease, opening the door to potential treatment targets.
For the first time, a variant in UBQLN4 gene has been associated with Lou Gehrig's disease or amyotrophic lateral sclerosis (ALS), a progressive disease resulting in the loss of nerve cells that control muscle movement that eventually leads to paralysis and death.
The study also described how this gene variant disrupts a cellular process that drives motor neuron development.
"We know that many genes are involved in ALS and a major goal in the field is to identify as many of these genes as we can so we can uncover targets for treatment at the cellular level," said lead author Brittany Edens.
Edens noted that they found that UBQLN4 gene variant interferes with a pathway involved in breaking down a certain protein called beta catenin and the resulting accumulation of this protein leads to defects in the motor neuron structure. These defects likely make motor neurons vulnerable to progressive degeneration seen in ALS.
Using a zebrafish model, researchers were able to reverse the defects caused by the UBQLN4 gene variant by inhibiting the beta catenin signaling pathway with the drug quercetin.
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.
The study is published in the journal eLife.
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