At the 10th Brain Research Conference: RNA Metabolism in Neurological Disease, a satellite of the Society for Neuroscience annual meeting, attendees learned about a parade of mice modeling different aspects of ALS and FTD that result from expansions in the C9ORF72 gene. Knockouts lose control of their immune systems, while transgenics overexpressing the repeat-heavy human gene ranged from normal to having movement and cognitive abnormalities. The results suggest the repeats cause toxicity, but scientists have plenty more to do to understand what the mice are telling them.
Phenotypes vary depending on the partial or full-length nature of the C9ORF72 transgene.
The ALS-linked RNA may convert free-floating proteins to liquid phase droplets.
The RNA-binding protein hnRNP A3 can help rid a cell of the repeat RNAs, but the RNAs interfere with its nuclear localization.
Scientists say treatments to muzzle faulty genes are making some headway.
Meet RBM45. This RNA-binding protein and relatively new player in the ALS field associates with stress-induced structures in the cytoplasm and nucleus.
Paralyzed mice recovered grip strength and balance when researchers turned off TDP-43.
In a process known as repeat-associated non-ATG translation, neurons and glia make alanine, serine, cysteine, and leucine chains from the huntingtin gene.