Molecular genetics of hereditary motor and sensory neuropathy with pyramidal signs

伴有锥体征的遗传性运动和感觉神经病的分子遗传学

• 批准号: nhmrc : 253673
• 负责人: A/Pr Marina Kennerson
• 金额: $ 15.7万
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2003
• 资助国家: 澳大利亚
• 起止时间: 2003-01-01 至 2005-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/molecular-genetics-hereditary-pyramidal-signs/76120
• 关键词: Molecular; genetics; hereditary; motor; sensory

This project aims to determine the molecular cause of hereditary motor neuropathies with pyramidal signs by chromosomal linkage studies and to screen suitable families to locate genes with disease causing mutations. We propose to use the resources of the human genome project to locate the defective gene. In previous studies we have used these methods to identify genes of two other hereditary diseases of nerve. Our data suggests that this disorder forms part of the largest group of hereditary neuropathies yet to be defined. Because this disorder affects long spinal cord neurones, identifying the mutated gene and studying its function may shed light on possible mechanisms involved in other spinal cord diseases. This research is a systematic search and should lead to identifying the abnormal gene causing disease. Once the gene involved is known then an effective diagnostic test will be developed. When a test for the disease is available, it is likely that we will find that the disorder is more common than previously recognised. Knowledge of the function of the gene will lead to an understanding of how the disease develops and will eventually enable development of effective treatments.

本项目旨在通过染色体连锁研究确定遗传性运动神经病伴锥体束征的分子病因，并筛选合适的家系以定位致病突变基因。我们建议利用人类基因组计划的资源来定位缺陷基因。在以前的研究中，我们已经使用这些方法来确定其他两种遗传性神经疾病的基因。我们的数据表明，这种疾病的一部分，最大的遗传性神经病变组尚未被定义。由于这种疾病影响长脊髓神经元，识别突变基因并研究其功能可能有助于了解其他脊髓疾病的可能机制。这项研究是一项系统性的研究，应该会导致识别导致疾病的异常基因。一旦知道了相关基因，就会开发出有效的诊断测试。当一种疾病的测试可用时，我们很可能会发现这种疾病比以前认识到的更常见。了解基因的功能将有助于了解疾病的发展过程，并最终开发出有效的治疗方法。