Genetic bases for Charcot-Marie-Tooth and Hereditary Sensory type 1 Neuropathies

腓骨肌萎缩症和遗传性感觉 1 型神经病的遗传基础

• 批准号: nhmrc : 153895
• 负责人: A/Pr Marina Kennerson
• 金额: $ 41.21万
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2001
• 资助国家: 澳大利亚
• 起止时间: 2001-01-01 至 2003-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/genetic-bases-charcot-1-neuropathies/96853
• 关键词: Genetic; bases; Charcot; Marie; Tooth

This project aims to identify the defective gene in a hereditary disease of peripheral nerve. The hereditary disorders of peripheral nerve form the commonest group of human genetic diseases, collectively called Charcot-Marie-Tooth neuropathy. Although few hereditary nerve diseases are fatal most cause lifelong disability. All cause weakness of the lower legs and later weakness and wasting of the muscles of the arm and hand. Affected individuals have difficulty running, frequent falls with gradually increasing disability eventually requiring splints and other walking aids. We propose to use the newly developed resources of the human genome project to locate the defective gene. In previous studies we have used these methods to locate the defective genes of 2 other hereditary diseases of nerve. In this study we propose to investigate a newly recognised form of CMT called intermediate CMT. Intermediate CMT has characteristics intermediate between the better known forms of CMT affecting the nerve itself (the axon) or the nerve insulation (the surrounding myelin sheath). The disorder may therefore affect both components of nerve. The affected gene may mediate communication between the nerve and its sheath. This research should give valuable insight into the mechanisms responsible for the maintenance of normal nerve. Finding the gene may therefore have relevance to many other diseases of nerve. This research is a systematic search and should lead to the abnormal gene causing the disease. Once the gene involved is known then an effective test will be developed. When we can test for the disease, we probably will find that the disorder is much more common than previously recognised. Knowledge of the function of this gene will lead to an understanding of how the disease develops and will eventually lead to effective treatments.

该项目旨在识别周围神经遗传性疾病中的缺陷基因。周围神经遗传性疾病是人类遗传疾病中最常见的一类，统称为腓骨肌萎缩症神经病。尽管很少有遗传性神经疾病是致命的，但大多数会导致终身残疾。所有这些都会导致小腿无力，然后导致手臂和手部肌肉无力和萎缩。受影响的人跑步困难，经常跌倒，残疾逐渐增加，最终需要夹板和其他助行器。我们建议利用人类基因组计划新开发的资源来定位缺陷基因。在之前的研究中，我们已经使用这些方法来定位另外两种神经遗传性疾病的缺陷基因。在这项研究中，我们建议研究一种新认识的 CMT 形式，称为中间 CMT。中级 CMT 具有介于影响神经本身（轴突）或神经绝缘层（周围髓鞘）的更广为人知的 CMT 形式之间的特征。因此，这种疾病可能会影响神经的两个组成部分。受影响的基因可能介导神经与其鞘之间的通讯。这项研究应该对负责维持正常神经的机制提供有价值的见解。因此，发现该基因可能与许多其他神经疾病有关。这项研究是一项系统性的搜索，应该能够找出导致疾病的异常基因。一旦知道所涉及的基因，就会开发出有效的测试。当我们能够检测这种疾病时，我们可能会发现这种疾病比以前认识到的更为常见。了解该基因的功能将有助于了解疾病如何发展，并最终导致有效的治疗。