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Updated: Sep 28, 2025

Growth Assays to Assess Polyglutamine Toxicity in Yeast
Published on: March 5, 2012
Ion channels and neuronal excitability in polyglutamine neurodegenerative diseases
Vladimir A Martinez-Rojas1, Leon J Juarez-Hernandez1, Carlo Musio1
1Institute of Biophysics (IBF), Trento Unit, National Research Council (CNR), Via Sommarive 18, 38123 Trento, Italy.
Abstract:
Polyglutamine (polyQ) diseases are a family composed of nine neurodegenerative inherited disorders (NDDs) caused by pathological expansions of cytosine-adenine-guanine (CAG) trinucleotide repeats which encode a polyQ tract in the corresponding proteins. CAG polyQ repeat expansions produce neurodegeneration via multiple downstream mechanisms; among those the neuronal activity underlying the ion channels is affected directly by specific channelopathies or indirectly by secondary dysregulation. In both cases, the altered excitability underlies to gain- or loss-of-function pathological effects. Here we summarize the repertoire of ion channels in polyQ NDDs emphasizing the biophysical features of neuronal excitability and their pathogenic role. The aim of this review is to point out the value of a deeper understanding of those functional mechanisms and processes as crucial elements for the designing and targeting of novel therapeutic avenues.
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