The role of dysferlin in muscular dystrophy and skeletal muscle membrane repair.

Dysferlin 在肌营养不良和骨骼肌膜修复中的作用。

• 批准号: nhmrc : 570744
• 负责人: A/Pr Sandra Cooper
• 金额: $ 21.12万
• 依托单位: The University of Sydney
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2009
• 资助国家: 澳大利亚
• 起止时间: 2009-01-01 至 2011-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/role-dysferlin-muscular-membrane-repair/78311
• 关键词: role; dysferlin; muscular; dystrophy; skeletal

Patients who lack the protein dysferlin have muscular dystrophy. These patients are unable to repair their muscle membranes, which get damaged during normal activities. A defect in membrane repair is a new pathway implicated in the muscular dystrophies, and it is likely that other patients will also have defective muscle membrane repair. We will find out how dysferlin mediates its role in membrane repair, and identify other dysferlin-interacting proteins, as these may also underlie disease.

缺乏蛋白质功能障碍蛋白的患者会患上肌肉营养不良。这些患者无法修复在正常活动中受损的肌膜。膜修复缺陷是肌营养不良的一种新途径，其他患者也有可能出现膜修复缺陷。我们将了解deferlin如何在膜修复中发挥作用，并鉴定其他相互作用的蛋白质，因为这些也可能是疾病的基础。