Bhagavati S, Ghatpande A, Leung B
Department of Neurology, State University of New York Health Sciences Center, NY 11203, USA.
Biochim Biophys Acta. 1996 Dec 16;1317(3):155-7. doi: 10.1016/s0925-4439(96)00057-9.
A major question about the pathogenesis of myotonic dystrophy (DM) is how the (CTG)n repeat mutation alters expression of the DM gene and how that is related to disease causation. Most previous studies have found a decrease in DM RNA and protein in patient tissue. In contrast to these reports we find, unexpectedly, that independent of the size of the CTG repeat: (1) there are equal levels of RNA products of mutant and normal alleles, and (2) levels of Mt-PK in skeletal muscle from DM patients is unaltered from normal. These findings are consistent with the recent hypothesis that mutant DM DNA or RNA may cause disease by disrupting the function of other, yet unidentified, genes.
关于强直性肌营养不良（DM）发病机制的一个主要问题是，（CTG）n重复突变如何改变DM基因的表达以及这与疾病病因有何关联。以往大多数研究发现患者组织中DM RNA和蛋白质减少。与这些报告相反，我们意外地发现，与CTG重复序列的大小无关：（1）突变等位基因和正常等位基因的RNA产物水平相等，（2）DM患者骨骼肌中的Mt-PK水平与正常水平无差异。这些发现与最近的假说一致，即突变的DM DNA或RNA可能通过破坏其他尚未确定的基因的功能而导致疾病。
