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Pathology: Two of a kind.

机译:病理:两种。

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All muscular dystrophies are characterized by progressive muscle wasting, despite being a genetically heterogeneous group of inherited disorders. Reginald Bittner and colleagues now propose that genomic instability (which is more commonly associated with cancer) may be a unifying pathomechanism in genetically distinct muscular dystrophies.Schmidt et al. observed that different mouse models of muscular dystrophy, which harboured mutations in some of the most commonly mutated muscular dystrophy-associated genes - dystrophin (Dmd), dysferlin (Dysf), calpain 3 (Capn3) or like-glycosyltransferase (Large) - were prone to develop age-related mixed rhabdomyosarcomas, fibrosarcomas and liposarcomas. Furthermore, Dmd~-/-Dysf~-/-and Dmd~-/-Capn3~-/- double-knockout mice suffered from accelerated sarcomagenesis, prompting the authors to suggest that muscular dystrophy-associated genes may act as tumour suppressors.
机译:尽管是遗传性遗传异质性疾病组,但所有肌肉营养不良均以进行性肌肉消瘦为特征。雷金纳德·比特纳(Reginald Bittner)及其同事现在提出,基因组不稳定性(通常与癌症有关)可能是遗传上不同的肌肉营养不良的统一病机。观察到不同类型的肌肉营养不良的小鼠模型很容易出现,这些小鼠模型具有某些最常见的与肌肉营养不良相关的基因突变-肌营养不良蛋白(Dmd),dysferlin(Dysf),钙蛋白酶3(Capn3)或类似的糖基转移酶(Large)-发展与年龄有关的混合性横纹肌肉瘤,纤维肉瘤和脂肪肉瘤。此外,Dmd〜-/-Dysf〜-/-和Dmd〜-/-Capn3〜-/-双敲除小鼠患有加速的肉瘤形成,促使作者提出与肌营养不良症相关的基因可能起到抑癌作用。

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