Molecular mechanisms of disease in the collagen VI-related muscular dystrophies

在澳大利亚，遗传性肌肉萎缩症是导致残疾的一个重要原因。该项目集中研究第二种最常见的先天性肌肉萎缩症——由胶原蛋白VI及其相互作用伙伴的突变引起的肌肉萎缩症。我们将确定突变是如何影响蛋白质结构的，以及突变是如何破坏肌肉的。这项工作将为潜在疗法的研究开辟道路。我们还将发现导致肌肉萎缩症的新基因。

The inherited muscular dystrophies are an important cause of disability in Australia. This project concentrates on the second most common group of congenital muscular dystrophies - those caused by mutations in collagen VI and its interacting partners. We will determine how mutations affect the structure of the protein and how the muscle is disrupted by the mutations. This work will open the way for research into potential therapies. We will also find new genes that cause muscular dystrophy.