CONTEXT: Polyglutamine-mediated neurodegeneration in spinocerebellar ataxia type 7 (SCA7) involves specific central nervous system structures despite widespread expression of the mutant ataxin-7 protein. OBJECTIVE: To determine whether expression of multiple gene products could contribute to selective neurodegeneration in SCA7. RESULTS: We identified a novel SCA7 transcript and protein, both of which are enriched within the central nervous system. An isoform-specific antibody revealed that the novel ataxin-7 variant, in contrast with the previously described protein, localizes to neuronal cytoplasm and not to inclusion bodies present within the tissues of patients with SCA7. CONCLUSIONS: In addition to expanding our understanding of SCA7 gene expression, identification of a novel ataxin-7 protein enriched in the central nervous system suggests that expression of multiple polyglutamine-containing proteins may play a role in generating the neurodegenerative patterns characteristic of SCA7 and other polyglutamine expansion diseases.
CONTEXT: Polyglutamine-mediated neurodegeneration in spinocerebellar ataxia type 7 (SCA7) involves specific central nervous system structures despite widespread expression of the mutant ataxin-7 protein. OBJECTIVE: To determine whether expression of multiple gene products could contribute to selective neurodegeneration in SCA7. RESULTS: We identified a novel SCA7 transcript and protein, both of which are enriched within the central nervous system. An isoform-specific antibody revealed that the novel ataxin-7 variant, in contrast with the previously described protein, localizes to neuronal cytoplasm and not to inclusion bodies present within the tissues of patients with SCA7. CONCLUSIONS: In addition to expanding our understanding of SCA7 gene expression, identification of a novel ataxin-7 protein enriched in the central nervous system suggests that expression of multiple polyglutamine-containing proteins may play a role in generating the neurodegenerative patterns characteristic of SCA7 and other polyglutamine expansion diseases.
Authors: Ginny Marie Harris; Katerina Dodelzon; Lijie Gong; Pedro Gonzalez-Alegre; Henry L Paulson Journal: PLoS One Date: 2010-10-27 Impact factor: 3.240
Authors: Conceição Bettencourt; Cristina Santos; Rafael Montiel; Maria do Carmo Costa; Pablo Cruz-Morales; Liliana Ribeiro Santos; Nelson Simões; Teresa Kay; João Vasconcelos; Patrícia Maciel; Manuela Lima Journal: Neurogenetics Date: 2009-08-28 Impact factor: 2.660