Identification of genetic defects in muscle contractile proteins

先天性肌病是一组主要遗传性疾病，从出生起就引起肌肉无力。一些先天性肌病可导致受影响儿童的早期死亡，而其他类型的肌病则与成年相适应。像任何儿童疾病一样，先天性肌病给患病儿童的家庭造成了巨大的创伤。有可能生育另一个受影响孩子的夫妇往往选择等待对其特定疾病的产前诊断，然后再试图生育更多的孩子。然而，产前诊断只有在确定了导致疾病的基因和个体家庭的突变后才有可能。如果能证明患病的孩子有新的突变，那么确定致病突变可能有助于减轻父母的负罪感，而父母对阻止孩子患上这种疾病无能为力。在过去，这个实验室，澳大利亚神经肌肉研究所的分子神经遗传学实验室，除其他外，已经确定了先天性肌病的疾病基因。对于那些致病突变已被确定的家庭，现在可以进行产前诊断。然而，大多数先天性肌病的遗传原因尚不清楚。该实验室已成为先天性肌病遗传研究的参考中心，特别是主要形式的线状肌病。来自世界各地的DNA样本被送到这里进行研究。该项目旨在研究这种DNA，以确定导致先天性肌病的其他疾病基因，以帮助目前无法进行产前诊断的有这些疾病风险的家庭。发现这些基因也增加了对这些疾病的了解。它阐明了哪些蛋白质参与其中。它允许对突变蛋白进行研究。它使人们有可能了解疾病是如何产生的，从而使未来的治疗成为可能。

Congenital myopathies are a group of mostly inherited disorders which cause muscle weakness from birth. Some congenital myopathies can lead to the early death of the affected child, while other types are compatible with reaching adulthood. Like any diseases of childhood, the congenital myopathies cause great trauma to the families with an affected child. Couples at risk of having another affected child often opt to wait for prenatal diagnosis to become available for their particular disease before attempting to have further children. However, prenatal diagnosis is only possible once the gene causing a disorder and the mutation in an individual family are identified. Identifying the disease-causing mutation may help the common feelings of guilt in the parents if it can be shown that the affected child has a new mutation, and there is nothing the parents could have done to stop their child having the disease. In the past, this Laboratory, the Molecular Neurogenetics Laboratory at the Australian Neuromuscular Research Institute, amongst others, has identified disease genes for the congenital myopathies. Prenatal diagnosis is now possible for those families whose disease-causing mutation has been identified. However the genetic cause of most of the congenital myopathies remains unknown. This Laboratory has become a reference centre for genetic studies of the congenital myopathies, especially the major form called nemaline myopathy. DNA samples have been sent here from around the world for study. This project aims to study this DNA, to identify other disease genes causing the congenital myopathies in order to help the families at risk with these conditions who currently cannot have prenatal diagnosis. Finding the genes also increases understanding of the diseases. It clarifies which proteins are involved. It allows studies of the mutated proteins to be undertaken. It makes it possible to understand how the diseases arise allowing future treatment of the conditions.