Goswami Rituparna, Bello Abudu I, Bean Joe, Costanzo Kara M, Omer Bwaar, Cornelio-Parra Dayanne, Odah Revan, Ahluwalia Amit, Allan Shefaa K, Nguyen Nghi, Shores Taylor, Aziz N Ahmad, Mohan Ryan D
Division of Biological and Biomedical Systems, School of Science and Engineering, University of Missouri-Kansas City, Kansas City, MO, United States.
Population Health Sciences, German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
Front Neurosci. 2022 Mar 24;16:818757. doi: 10.3389/fnins.2022.818757. eCollection 2022.
Spinocerebellar ataxia (SCA) type 7 (SCA7) is caused by a CAG trinucleotide repeat expansion in the ataxin 7 () gene, which results in polyglutamine expansion at the amino terminus of the ATXN7 protein. Although ATXN7 is expressed widely, the best characterized symptoms of SCA7 are remarkably tissue specific, including blindness and degeneration of the brain and spinal cord. While it is well established that ATXN7 functions as a subunit of the Spt Ada Gcn5 acetyltransferase (SAGA) chromatin modifying complex, the mechanisms underlying SCA7 remain elusive. Here, we review the symptoms of SCA7 and examine functions of ATXN7 that may provide further insights into its pathogenesis. We also examine phenotypes associated with polyglutamine expanded ATXN7 that are not considered symptoms of SCA7.
7型脊髓小脑共济失调（SCA7）是由ataxin 7（ATXN7）基因中的CAG三核苷酸重复扩增引起的，这导致ATXN7蛋白氨基末端的多聚谷氨酰胺扩增。尽管ATXN7广泛表达，但SCA7最典型的症状具有显著的组织特异性，包括失明以及脑和脊髓变性。虽然已经明确ATXN7作为Spt Ada Gcn5乙酰转移酶（SAGA）染色质修饰复合物的一个亚基发挥作用，但SCA7的潜在机制仍然难以捉摸。在这里，我们回顾了SCA7的症状，并研究了ATXN7的功能，这些功能可能为其发病机制提供进一步的见解。我们还研究了与多聚谷氨酰胺扩增的ATXN7相关的表型，这些表型不被认为是SCA7的症状。
