A recent study led by researchers at the University College London (UCL) and the National Institutes of Health (NIH) has determined why a common genetic variant worsens the disease outcome for persons diagnosed with FTD and amyotrophic lateral sclerosis (ALS).

The study, published in Nature, shows how the depletion of TDP-43 proteins, which is one of the proteins in the brain that forms abnormal accumulations in FTD, corrupts the genetic instructions for the neuronal protein UNC13A.

According to an article published in News Medical Life Sciences, UNC13A enables neurons to communicate with each other via neurotransmitter release. The researchers believe that the corruptions of UNC13A’s genetic instructions may have potentially fatal consequences in persons with FTD and ALS.

Researchers say that the discovery could be useful for developing new treatments such as a therapy that blocks the corruption of UNC13A’s genetic instructions. This possible gene therapy could slow disease progression for most people with ALS and about half of persons diagnosed with FTD.

“We have known for a long time that genetic variants in UNC13A cause an increased risk of ALS and dementia, but nobody had figured out why this is the case,” the study’s co-corresponding author Dr. Michael Ward told News Medical. “Together, our teams showed exactly how this genetic risk factor for ALS interplays with the core disease mechanism, TDP-43 loss, in order to worsen the disease course.”

Read the full News Medical Life Sciences article here.