Are Polyglutamine Diseases Expanding?

Are Polyglutamine Diseases Expanding?

It remains a matter of speculation as to whether the sense CUG-containing RNA and/or the antisense CAG-encoding polyglutamine peptide serves as the pathogenic moiety in Huntington's disease like-2 (HDL2). In this issue of Neuron, Wilburn et al. show that in a HDL2 mouse model, the polyglutamine peptide drives disease progression.

Expanding Our Understanding of Polyglutamine Diseases through Mouse Models

becomes significant only after 6 months of age, long The polyglutamine neurodegenerative diseases—a group after the phenotype has appeared. The axons of the that so far includes spinobulbar muscular atrophy murine Purkinje cells are not dilated like the human (SBMA), Huntington’s disease (HD), dentatorubropalliSCA1-affected cells, but this is the only pathologic difdoluysian atrophy (DRPLA) and...

Autophagy and polyglutamine diseases

In polyglutamine diseases, an abnormally elongated polyglutamine tract results in protein misfolding and accumulation of intracellular aggregates. The length of the polyglutamine expansion correlates with the tendency of the mutant protein to aggregate, as well as with neuronal toxicity and earlier disease onset. Although currently there is no effective cure to prevent or slow down the progress...

Oligonucleotide-based strategies to combat polyglutamine diseases

Considerable advances have been recently made in understanding the molecular aspects of pathogenesis and in developing therapeutic approaches for polyglutamine (polyQ) diseases. Studies on pathogenic mechanisms have extended our knowledge of mutant protein toxicity, confirmed the toxicity of mutant transcript and identified other toxic RNA and protein entities. One very promising therapeutic st...

Beyond the Qs in the polyglutamine diseases.