Glutamine/arginine site-unedited GluA2 mRNA in cerebrospinal fluid as a biomarker for amyotrophic lateral sclerosis

Introduction Amyotrophic lateral sclerosis (ALS) is an incurable motor neuron disease with diverse clinical manifestations and progression speed among patients.1 Reliable diagnostic biomarkers for sporadic ALS are currently lacking, leading to delayed diagnosis. Therefore, developing disease-specific diagnostic biomarkers reflecting ALS processes is a critical unmet medical need. Moreover, biomarkers predicting treatment efficacy are required, given the increasing number of clinical trials investigating potential therapies resulting from the increase in knowledge regarding ALS pathogenesis.1 Excitotoxicity or dysregulation of glutamatergic signalling has long been considered a plausible mechanism underlying motor neuron death in both sporadic and familial ALS.1 In healthy neurons, the glutamine/arginine (Q/R) site of all expressed GluA2, a subunit of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptors, is subjected to RNA editing by adenosine deaminase acting on RNA 2 (ADAR2), which catalyses adenosine-to-inosine conversion of premessenger RNA.1 In the lower motor neurons...
Source: Journal of Neurology, Neurosurgery and Psychiatry - Category: Neurosurgery Authors: Tags: PostScript Source Type: research