ePoster · Neuroscience
Expression of membrane proteins is disrupted in C9orf72 mutation ALS and FTD
Urša Čerček, Jerneja Nimac, Vera Župunski, Boris Rogelj · FENS Forum 2024
Our research delves into the genetic underpinnings of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), with a specific focus on the prevalent C9orf72 gene mutation. This mutation involves the expansion of a hexanucleotide repeat sequence - GGGGCC - transcribed in both sense (G4C2)n and antisense (C4G2)n directions, leading to the formation of nuclear RNA foci. A pivotal finding in our recent study is the discovery of an interaction between antisense C4G2 repeat RNA and phenylalanine-tRNA synthetase (FARS), resulting in diminished charging of phenylalanine-tRNA and consequ