Viral therapy for skeletal muscle alpha-actin disease and discovery of novel neuromuscular disease genes and mechanisms

骨骼肌α-肌动蛋白疾病的病毒治疗以及新型神经肌肉疾病基因和机制的发现

• 批准号: nhmrc : 1035955
• 负责人: Dr Gianina Ravenscroft
• 金额: $ 21.61万
• 依托单位: The University of Western Australia
• 依托单位国家: 澳大利亚
• 项目类别: Early Career Fellowships
• 财政年份: 2012
• 资助国家: 澳大利亚
• 起止时间: 2012-01-01 至 2017-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/viral-therapy-skeletal-genes-mechanisms/110992
• 关键词: Viral; therapy; skeletal; muscle; alpha

This research project is the next logical step towards treating patients with skeletal muscle actin disease - using viral delivery of normal actin genes in animal models of actin disease. Another arm of this project is to investigate the genetics and mechanisms causing two very different groups of muscle disorders in the Australian population: devastating muscle weakness in the foetal akinesias and enhanced muscle strength and bulk in individuals with strongman syndromes.

这项研究项目是治疗骨骼肌肌动蛋白疾病患者的下一个合乎逻辑的步骤-在肌动蛋白疾病的动物模型中使用病毒传递正常的肌动蛋白基因。该项目的另一个分支是调查导致澳大利亚人群中两组非常不同的肌肉疾病的遗传学和机制：胎儿运动不动症的破坏性肌肉无力，以及患有强人综合征的个人肌肉力量和肌肉体积的增强。