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中和肌肉萎縮癥遺傳基因缺陷

放大字體  縮小字體 發布日期:2009-07-25
核心提示: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 pav

    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.

    美國羅切斯特大學醫學中心( URMC )研究人員已經找到一種在共同形式肌肉萎縮癥中心阻止遺傳基因缺陷的方法。這項發表在今天出版的科學雜志研究結果,可以作為治療這種癥狀的新療法。

    研究人員使用了一種合成分子分離帶毒遺傳基因,重建被疾病破壞的細胞活動。因為科學家認為,所有的強直性肌癥狀 -- 最常見的成人肌肉萎縮癥 -- 皆是起因於這單一遺傳基因缺陷。將其中和可望恢復病人的肌肉功能。

    "這項研究建立了一個可成功遵循開發的治療強直性肌營養不良癥的概念證明",資深研究作者和URMC威爾斯肌肉萎縮癥合作研究中心聯合主任,URMC 神經學家醫學博士查爾斯頓說。"這同時也顯示出扭轉癥發后潛力,而不只是單求防止惡化。"

    強直性肌營養不良癥是一種退化性疾病,其癥狀是漸進性肌肉消瘦及虛弱。強直性肌營養不良病患具長期肌肉拉緊(肌強直)和在使用后無法放松某些肌肉。手部肌肉為特別嚴重,可能導致抓力鎖定,而無法執行快速重復動作。目前還沒有藥物能抑止這種疾病的惡化。

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