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Updated: Apr 22, 2026

Monitoring Protein Aggregation Kinetics In Vivo using Automated Inclusion Counting in Caenorhabditis elegans
Published on: December 17, 2021
From pathways to targets: understanding the mechanisms behind polyglutamine disease
Jonasz Jeremiasz Weber1, Anna Sergeevna Sowa1, Tina Binder1
1Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstraße 7, 72076 Tübingen, Germany ; Rare Disease Center, Calwerstraße 7, 72076 Tübingen, Germany.
Abstract:
The history of polyglutamine diseases dates back approximately 20 years to the discovery of a polyglutamine repeat in the androgen receptor of SBMA followed by the identification of similar expansion mutations in Huntington's disease, SCA1, DRPLA, and the other spinocerebellar ataxias. This common molecular feature of polyglutamine diseases suggests shared mechanisms in disease pathology and neurodegeneration of disease specific brain regions. In this review, we discuss the main pathogenic pathways including proteolytic processing, nuclear shuttling and aggregation, mitochondrial dysfunction, and clearance of misfolded polyglutamine proteins and point out possible targets for treatment.
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