Topic: ATXN2

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant disorder caused by an abnormal expansion of the trinucleotide CAG in the coding region of the ATXN2 gene. This is translated into an expanded polyglutamine tract in the ataxin-2 protein, leading to a gain of toxic function affecting especially the neurons. Besides the pathogenic mechanisms triggered by ataxin-2 dysfunction, previous studies showed that abnormally expanded CAG repeats display toxicity already at the RNA level, contributing to disease pathogenesis. Considering these data, it is important to develop therapeutic approac

Spinocerebellar ataxia type 2 (SCA2) is a rare neurodegenerative disease that arises from a mutation within the ATXN2 gene characterised by abnormally long CAG trinucleotide repeats. The mutant gene product is the ataxin-2 protein, which bears an expanded glutamine tract. The mutant protein is known to disrupt molecular pathways within cells, leading to cellular death and neurodegeneration within specific brain regions.To cope with disrupted pathways, cells have mechanisms such as the Integrated Stress Response (IRS), which help cells resolve stress situations by reorganising translation to pr