Related Experiment Video
Updated: May 26, 2026

Measuring RAN Peptide Toxicity in C. elegans
Published on: April 30, 2020
CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis
A Bruson1, F Sambataro, G Querin
1Department of Pediatrics, Clinical Genetics Unit, Università di Padova, Padova, Italy.
Background:
Epidemiological and clinical studies show higher prevalence of amyotrophic lateral sclerosis (ALS) in males than in females and more severe lesions in androgen receptor (AR)-expressing tissues. The AR gene contains a polymorphic CAG trinucleotide repeat, whose expansion over a certain threshold is toxic to motor neurons, causing spinal and bulbar muscular atrophy (SBMA).
Purpose And Methods:
We tested the hypothesis that the AR CAG repeat linked to SBMA is a risk factor for ALS. We analyzed AR CAG expansions in 336 patients with ALS and 100 controls.
Results:
We found a negative association of AR CAG expansions with ALS susceptibility, clinical presentation, and survival.
Conclusions:
Our findings do not support a role of the AR CAG repeat length in ALS.
Related Concept Videos
Huntington Disease l: Introduction
RNA Splicing
Non-LTR Retrotransposons
Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

