The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone
The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone
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DOI：
10.1038/ng1677
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发表时间：
2005-12-01
期刊：
影响因子：
30.8
通讯作者：
Lehesjoki, AE
中科院分区：
文献类型：
--
作者：
Anttonen, AK;Mahjneh, I;Lehesjoki, AE
我们确定了Marinesco-Sjogren综合征的潜在基因，该综合征的特征是小脑性共济失调、进行性肌病和白内障。我们在SIL1中发现了四个与疾病相关的预测功能丧失突变，SIL1编码热休克蛋白70(HSP70)伴侣HSPA5的核苷酸交换因子。这些数据，加上Sil1和Hspa5相似的组织表达的时空模式，表明SIL1-HSPA5相互作用和蛋白质折叠紊乱是Marinesco-Sjogren综合征的主要病理机制。
We identified the gene underlying Marinesco-Sjogren syndrome, which is characterized by cerebellar ataxia, progressive myopathy and cataracts. We identified four disease-associated, predicted loss-of-function mutations in SIL1, which encodes a nucleotide exchange factor for the heat-shock protein 70 (HSP70) chaperone HSPA5. These data, together with the similar spatial and temporal patterns of tissue expression of Sil1 and Hspa5, suggest that disturbed SIL1-HSPA5 interaction and protein folding is the primary pathology in Marinesco-Sjogren syndrome.