Expanded repeat in canine epilepsy
Expanded repeat in canine epilepsy
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DOI：
10.1126/science.1102832
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发表时间：
2005-01-07
期刊：
影响因子：
56.9
通讯作者：
Minassian, BA
中科院分区：
文献类型：
--
作者：
Lohi, H;Young, EJ;Minassian, BA
1%的人类和5%的狗患有癫痫。我们报告犬癫痫突变和证据的重复扩展疾病的存在人类以外。犬科动物epm2b （Nhlrc1）基因中一个不稳定的十二体重复序列反复扩增，导致致命的癫痫，并导致犬类癫痫的高发病率。对重复起源的追踪揭示了两个连续的事件，始于5000万年前，这是犬科动物进化所独有的。基因测试，在这里提出，将允许携带者和症状前诊断和疾病根除。临床病理特征确定受影响的动物作为拉福拉病的模型，最严重的青少年发作的人类癫痫。
Epilepsy afflicts 1% of humans and 5% of dogs. We report a canine epilepsy mutation and evidence for the existence of repeat-expansion disease outside humans. A canid-specific unstable dodecamer repeat in theEpm2b(Nhlrc1) gene recurrently expands, causing a fatal epilepsy and contributing to the high incidence of canine epilepsy. Tracing the repeat origins revealed two successive events, starting 50 million years ago, unique to canid evolution. A genetic test, presented here, will allow carrier and presymptomatic diagnosis and disease eradication. Clinicopathologic characterization establishes affected animals as a model for Lafora disease, the most severe teenage-onset human epilepsy.