Identification of genetic defects in muscle contractile proteins

先天性肌病是一组主要是遗传性疾病，从出生起就会导致肌肉无力。一些先天性肌病可能会导致受影响儿童的过早死亡，而另一些类型则与成年相容。像任何儿童疾病一样，先天性肌病会给有患病儿童的家庭带来巨大的创伤。有可能再生一个孩子的夫妇通常选择等待产前诊断对他们的特定疾病可用，然后再尝试生下一个孩子。然而，只有在确定了导致疾病的基因和个体家庭中的突变之后，产前诊断才有可能。如果能够证明受影响的孩子有一个新的突变，而父母无法阻止他们的孩子患上这种疾病，那么识别致病突变可能有助于父母共同的负罪感。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等已经确定了先天性肌病的疾病基因。对于那些已被发现致病突变的家庭，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仍不清楚。该实验室已成为先天性肌病，特别是称为线状肌病的主要形式的遗传学研究的参考中心。DNA样本已经从世界各地送到这里进行研究。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。发现这些基因还可以增加对这些疾病的了解。它澄清了哪些蛋白质参与其中。这使得对突变蛋白质的研究得以进行。这使得了解疾病是如何发生的成为可能，从而允许未来对这些疾病的治疗。

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.