Pulling complexes out of complex diseases: Spinocerebellar Ataxia 7.

Rare diseases (Austin, Tex.) Pub Date : 2014-04-14 eCollection Date: 2014-01-01 DOI:10.4161/rdis.28859
Ryan D Mohan, Susan M Abmayr, Jerry L Workman
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引用次数: 5

Abstract

Spinocerebellar ataxia 7 (SCA7) is an incurable disease caused by expansion of CAG trinucleotide sequences within the Ataxin-7 gene. This elongated CAG tract results in an Ataxin-7 protein bearing an expanded polyglutamine (PolyQ) repeat. SCA7 disease is characterized by progressive neural and retinal degeneration leading to ataxia and blindness. Evidence gathered from investigating SCA7 and other PolyQ diseases strongly suggest that misregulation of gene expression contributes to neurodegeneration. In fact, Ataxin-7 is a subunit of the essential Spt-Ada-Gcn5-Acetltransferase (SAGA) chromatin modifying complex that regulates expression of a large number of genes. Here we discuss recent insights into Ataxin-7 function and, considering these findings, propose a model for how polyglutamine expansion of Ataxin-7 may affect Ataxin-7 function to alter chromatin modifications and gene expression.

Abstract Image

Abstract Image

从复杂疾病中提取复合物:脊髓小脑性共济失调
脊髓小脑性共济失调7 (Spinocerebellar ataxia 7, SCA7)是由Ataxin-7基因内CAG三核苷酸序列扩增引起的一种不治之症。这种延长的CAG通道导致Ataxin-7蛋白携带扩展的聚谷氨酰胺(PolyQ)重复序列。SCA7疾病的特征是进行性神经和视网膜变性,导致共济失调和失明。从调查SCA7和其他PolyQ疾病中收集的证据强烈表明,基因表达的失调有助于神经退行性变。事实上,Ataxin-7是重要的spt - ada - gcn5 -乙酰转移酶(SAGA)染色质修饰复合物的一个亚基,调控大量基因的表达。在这里,我们讨论了最近对Ataxin-7功能的见解,并考虑到这些发现,提出了一个模型,说明聚谷氨酰胺扩增Ataxin-7如何影响Ataxin-7功能,从而改变染色质修饰和基因表达。
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