The pathogenesis of motor neuron degeneration caused by a triplet repeat expansion in the androgen receptor gene.

男性性激素，或雄激素，通过与一种被称为雄激素受体的特定受体结合而起作用。雄激素在神经功能中起着重要而又鲜为人知的作用。我们的研究是调查雄激素受体的基因突变是如何导致肯尼迪的？年代的疾病。这是一种罕见的疾病，影响成年男性，导致神经死亡。受影响的神经是那些供应我们肌肉的神经，称为运动神经元。这会导致脸部和身体的肌肉萎缩。其他症状包括睾丸萎缩、生育能力下降和乳房组织增大。目前尚不清楚是什么原因导致肯尼迪的运动神经退化。年代的疾病。我们正在努力调查肯尼迪的死因。通过产生携带这种突变的转基因小鼠来感染S疾病。只有通过研究受这种疾病影响的转基因小鼠，我们才能开始了解神经发生了什么导致它们死亡，更重要的是，我们如何防止它们死亡。这些研究还将为性激素对神经的影响提供重要信息。因为目前还没有治疗肯尼迪的方法？这个项目的目的是研究我们如何治疗这种疾病。这将是我们第一次能够系统地测试潜在的治疗方法，并努力防止这些神经的退化。肯尼迪?这种疾病与许多其他神经退行性疾病有关，包括亨廷顿舞蹈症。这两种疾病是由相似的基因突变引起的。所有这些疾病都是由特定神经细胞的退化引起的。有证据表明，所有这些疾病可能都有类似的机制。因此，这项研究的结果将帮助我们了解一系列疾病，并可能最终导致治疗策略的发展，以防止其衰弱效应。

Male sex hormones, or androgens, work by binding to a specific receptor, known as the androgen receptor. Androgens have an important and yet poorly understood role in nerve function. Our research is investigating how a genetic mutation in the androgen receptor causes Kennedy?s disease. This is a rare disease, affecting adult males, which causes nerves to die. The nerves which are affected are those supplying our muscles, called motor neurons. This leads to muscle wasting in the face and body. Other symptoms include testicular wasting, reduced fertility and breast tissue enlargement. It is currently not known what causes motor nerves to degenerate in Kennedy?s disease. We are endeavouring to investigate the cause of Kennedy?s disease via the generation of a transgenic mouse carrying this mutation. It is only through a studying transgenic mouse affected by this disease can we begin to understand what is happening to nerves to cause them to die, and importantly, how can we prevent them from dying. These studies will also provide crucial information on the effects of sex hormones on nerves. As there is currently no treatment for Kennedy?s disease, an aim of this project is to investigate how we can treat this disease. This will be the first time that we can systemically test potential treatments and work toward preventing the degeneration of these nerves. Kennedy?s disease is related to a number of other neurodegenerative diseases including Huntington?s disease, which are caused by similar genetic mutations. All of these diseases are caused by degeneration of specific nerve cells. Evidence suggests that there may be similar mechanisms involved in all of these diseases. The results of this study will therefore help us to understand a range of diseases and may eventually lead to the development of therapeutic strategies to prevent their debilitating effects.