Sasagawa N, Saitoh N, Shimokawa M, Sorimachi H, Maruyama K, Arahata K, Isiura S, Suzuki K
Institute of Molecular and Cellular Biosciences, University of Tokyo, Japan.
Biochim Biophys Acta. 1996 Mar 1;1315(2):112-6. doi: 10.1016/0925-4439(95)00101-8.
A major challenge in the study of a new genetic entity called triplet-repeat disease is to identify the role of triplet repeats in the pathogenesis of the disease. We have developed a strategy to demonstrate the effect in the 3'-untranslated end of the (CTG) repeats in myotonic dystrophy gene (MtPK) and found that repeat expansion (CTG46) causes a slight decrease in the translation rate of MtPK cDNA which correlates with the finding in patients with myotonic dystrophy of a low amount of MtPK protein in muscle. These results provide an important clue for characterizing the genetic abnormality in other triplet-repeat diseases.
在对一种名为三联体重复疾病的新基因实体的研究中，一个主要挑战是确定三联体重复在该疾病发病机制中的作用。我们已经开发出一种策略，以证明肌强直性营养不良基因（MtPK）中（CTG）重复序列在3'非翻译区的作用，并发现重复序列扩增（CTG46）导致MtPK cDNA的翻译速率略有下降，这与肌强直性营养不良患者肌肉中MtPK蛋白含量低的发现相关。这些结果为表征其他三联体重复疾病中的基因异常提供了重要线索。
