What is it about?

Huntington's disease (HD) represents an important model for neurodegenerative disorders. It is mainly caused by cytotoxicity of the mutant huntingtin protein (Htt). While Htt is ubiquitously expressed, HD is characterized by selective neurodegeneration of the striatum. Here we discovered that Gpr52 may contribute to this selective neurodegeneration by stabilizing HTT protein. Reducing Gpr52 significantly rescued disease phenotype, suggesting it as a promising drug target

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Why is it important?

Gpr52 is a modulator of mutant HTT level and toxicity, and thus a promising target for Huntington' s disease. Gpr52 specifically stabilizes HTT proteins in the striatum and may contribute to selective degeneration in the striatum. Gpr52 locates in entirely an intron of Rabgap1l, which shows eptistatic effects in regulating HTT. This is a novel example of an intronic gene having a functional link with its host gene.

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This page is a summary of: A striatal-enriched intronic GPCR modulates huntingtin levels and toxicity, eLife, March 2015, eLife,
DOI: 10.7554/elife.05449.
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