The therapeutic potential of targeting RNA

强直性肌营养不良症(DM)是成人最常见的肌营养不良症。症状包括肌肉无力和消瘦、白内障、糖尿病和心跳不齐。DM是一种遗传性疾病，以两种形式存在：DM1和DM2。两者都是由另一段有缺陷的DNA引起的。最近的实验指出了两种形式糖尿病背后的共同机制。在这两种类型的糖尿病中，有缺陷的DNA都会被制造成RNA，但它会卡在细胞核里，在显微镜下可以看到糖尿病患者细胞中的斑点。我们已经证明，DM细胞中的这些斑点中存在三种特殊的蛋白质，称为肌盲蛋白。我们的目标是开发研究有缺陷的RNA的方法，这将允许开发治疗这种疾病的药物的分析或测试。这里开发的方法也有可能应用于其他人类疾病。

Myotonic Dystrophy (DM) is the most common form of muscular dystrophy in adults. Symptoms include muscle weakness and wasting, cataracts, diabetes, and irregular heartbeat. DM is an inherited condition that exists in two forms: DM1 and DM2. Both are caused by a different piece of faulty DNA. Recent experiments point to a common mechanism underlying both forms of DM. In both forms of DM the faulty DNA is made into RNA but this gets stuck in the nucleus and can be seen down the microscope as spots in the cells of DM patients. We have shown that three particular proteins, called muscleblind proteins, are present in the spots in DM cells. We aim to develop methods to study the faulty RNA, which will allow the development of assays or tests for drugs to treat the disorder. It is possible that the methods developed here may be applied to other human disorders.