Newswise — A pioneering new study led by UCL and National Institutes of Health (NIH) scientists has revealed, for the first time, why a common genetic variant worsens disease outcomes for people with the devastating adult-onset neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Published in Nature, the study shows how TDP-43 protein depletion, associated with almost all cases (97%) of ALS and half of FTD cases, corrupts the genetic instructions for the critical neuronal protein UNC13A.
Strikingly, it found that a mysterious genetic variant previously associated with disease risk increases the chance of UNC13A’s genetic instructions being corrupted among people with the diseases, thereby worsening risk and severity of ALS and FTD.
UNC13A enables neurons (nerve cells) to communicate with each other via neurotransmitter release, and data…
