Researchers at the University of Rochester Medical Center （URMC） have found a way to block the genetic flaw at the heart of a common form of muscular dystrophy. The results of the study, which were published today in the journal Science, could pave the way for new therapies that essentially reverse the symptoms of the disease.

    The researchers used a synthetic molecule to break up deposits of toxic genetic material and re-establish the cellular activity that is disrupted by the disease. Because scientists believe that potentially all of the symptoms of myotonic dystrophy – the most common form of muscular dystrophy in adults – flow from this single genetic flaw, neutralizing it could potentially restore muscle function in people with the disease.

    "This study establishes a proof of concept that could be followed to develop a successful treatment for myotonic dystrophy," said URMC neurologist Charles Thornton, M.D., the senior author of the study and co-director of the URMC Wellstone Muscular Dystrophy Cooperative Research Center. "It also demonstrates the potential to reverse established symptoms of the disease after they have developed, as opposed to simply preventing them from getting worse."

    Myotonic dystrophy is a degenerative disease characterized by progressive muscle wasting and weakness. People with myotonic dystrophy have prolonged muscle tensing （myotonia） and are not able to relax certain muscles after use. The condition is particularly severe in the hand muscles and can cause a person's grip to lock making it difficult to perform rapid, repeated movements. Currently there is no medication to halt the progression of the disease.

    美国罗切斯特大学医学中心（ URMC ）研究人员已经找到一种在共同形式肌肉萎缩症中心阻止遗传基因缺陷的方法。这项发表在今天出版的科学杂志研究结果，可以作为治疗这种症状的新疗法。

    研究人员使用了一种合成分子分离带毒遗传基因，重建被疾病破坏的细胞活动。因为科学家认为，所有的强直性肌症状 -- 最常见的成人肌肉萎缩症 -- 皆是起因於这单一遗传基因缺陷。将其中和可望恢复病人的肌肉功能。

    "这项研究建立了一个可成功遵循开发的治疗强直性肌营养不良症的概念证明",资深研究作者和URMC威尔斯肌肉萎缩症合作研究中心联合主任，URMC 神经学家医学博士查尔斯顿说。"这同时也显示出扭转症发后潜力，而不只是单求防止恶化。"

    强直性肌营养不良症是一种退化性疾病，其症状是渐进性肌肉消瘦及虚弱。强直性肌营养不良病患具长期肌肉拉紧（肌强直）和在使用后无法放松某些肌肉。手部肌肉为特别严重，可能导致抓力锁定，而无法执行快速重复动作。目前还没有药物能抑止这种疾病的恶化。