Myotonic dystrophy type I (DM1) is an autosomal dominant disease of which clinical manifestations resemble premature aging. We evaluated the contribution of telomere length in pathogenesis in 361 DM1 patients (12 with serial measurements) and 223 unaffected relative controls using qPCR assay. While no differences in baseline leukocyte relative telomere length (RTL) was noted, the data suggested an accelerated RTL attrition in DM1 (discovery cohort: T/S change/year = −0.013 in DM1 vs. −0.005 in controls, P = 0.04); similar trend was noted in validation cohort. Further investigations are needed to examine the role of TL in the pathophysiology of DM1.

中文翻译：

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I型强直性肌营养不良患者的白细胞端粒长度：一项前瞻性研究。

I型肌强直性营养不良（DM1）是一种常染色体显性遗传疾病，其临床表现类似于早衰。我们使用qPCR分析评估了361名DM1患者（12名进行了连续测量）和223名未受影响的相对对照在端粒形成中的发病机制。尽管未观察到基线白细胞相对端粒长度（RTL）的差异，但数据表明DM1中的RTL磨损加快（发现队列：T / S变化/年= DM1中的-0.013 vs.对照中的-0.005，P  = 0.04） ; 验证队列中也发现了类似的趋势。需要进一步的研究以检查TL在DM1的病理生理中的作用。