首页> 外文期刊>The Korean Journal of Genetics >Type I specific apoptosis in human myotonic dystrophy muscle fibers with the altered expression of DMPK transcripts
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Type I specific apoptosis in human myotonic dystrophy muscle fibers with the altered expression of DMPK transcripts

机译:DMPK转录物表达的改变导致人强直性肌营养不良肌纤维的I型特异性凋亡

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摘要

Muscular Myotonic dystrophy (DM), the most prevalent muscular disorder in adults, is associated with an expansion of CTG repeats in the 3'-untranslated region of the DM protein kinase gene. It is characterized by a series of typical morphological events; especially the type I-specific fiber atrophy being a frequently observed symptom. The occurrence of apoptosis in skeletal muscle in DM conditions has been reported although the pathogenic molecular mechanism for DM still remains obscure. We performed TUNEL assay for detection of apoptotic cells using muscle biopsies to find specific apoptotic pattern in a DM patient. Obtained data indicated that myo-nuclei are susceptible to DNA fragmentation especially in the type I muscle fibers in DM condition.To clarify any correlation between the expression level of DMPK transcripts and apoptosis, we isolated each type of cells using by laser capture microdissection (LCM) system for RT-PCR, and determined the expression levels of DMPK transcripts between the type I and II fibers from DM patient and normal individual. We found that the type I fibers displayed elevated levels of DMPK transcripts in DM patient. This study suggests that type I - specific apoptosis in DM patient may be associated with the altered levels of DMPK transcripts.
机译:肌肉强直性肌营养不良症(DM)是成年人中最普遍的肌肉疾病,与DM蛋白激酶基因3'-非翻译区CTG重复序列的扩增有关。它的特征是一系列典型的形态学事件。特别是I型特异性纤维萎缩是常见的症状。尽管DM的致病分子机制仍然不清楚,但已经报道了DM条件下骨骼肌细胞凋亡的发生。我们使用肌肉活检进行TUNEL分析以检测凋亡细胞,以发现DM患者的特定凋亡模式。获得的数据表明肌核易受DNA断裂的影响,尤其是在DM条件下的I型肌纤维中。 (RT-PCR)系统,并确定DM患者和正常个体的I型和II型纤维之间DMPK转录物的表达水平。我们发现I型纤维在DM患者中显示出较高水平的DMPK转录物。这项研究表明DM患者的I型特异性凋亡可能与DMPK转录物水平的改变有关。

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