Ataxin 7
Ataxin 7 is a protein of the SCA7 gene, which contains 892 amino acids with an expandable poly region close to the N-terminus. The expandable poly motif region in the protein contributes crucially to spinocerebellar ataxia pathogenesis by the induction of intranuclear inclusion bodies. ATXN7 is associated with both olivopontocerebellar atrophy type 3 and spinocerebellar ataxia type 7.
CAG repeat leads to pathological protein misfolding. In ataxin-7 gene has shown to cause cerebellar and brainstem degeneration as well as retinal conerod dystrophy. Polyglutamine expansion at the N-terminus of ataxin-7 causes protein aggregation, leading to the symptoms of ataxia with visual loss.
Research suggest that silencing of ataxin-7 in the retina by RNAi can be a possible therapeutic strategy for patients suffering from SCA7 retinal degeneration.
