An investigation of replicated genetic associations from a genome-wide study of sporadic MND.

我们正在努力寻找使人们容易患上运动神经元疾病（MND）的基因。这是一种消耗性疾病，患者在几个月内逐渐瘫痪，直到虚弱到无法呼吸。我们知道一些MND患者携带基因突变。对于大多数MND患者，我们认为某些常见的遗传变异可能会在某些情况下增加风险。MND有多种形式，我们不知道它们是否真的都是相同的潜在疾病，还是几种不同的情况碰巧看起来一样。这使得基因搜寻变得困难。此外，尽管MND很常见（大约每400人中就有1人会死于此病），但预期寿命非常短，因此在任何时候都没有多少受影响的人可以帮助研究。我们已经成功地在8号染色体上发现了MND的遗传信号，但我们现在需要确定信号来自哪里。如果我们能确切地找出这一区域的遗传变异，我们将对MND有更多的了解，这将使开发治疗方法变得更容易。

We are trying to find genes that make people likely to develop motor neuron disease (MND). This is a wasting disease in which an affected person becomes progressively paralysed over months until they are too weak to breathe.We know that a few people with MND carry a genetic mutation. For most people with MND we think that certain common genetic variations might increase the risk in certain situations.MND takes many forms and we do not know if they are really all the same underlying disease or several different conditions that happen to look the same. This makes gene-hunting difficult. Also, even though MND is quite common (about 1 in every 400 people will die from it), life expectancy is very poor and so at any one time there are not many affected people who can help with research.We have successfully found a genetic signal for MND on chromosome 8 but we now need to pinpoint where the signal is coming from. If we can find out exactly what genetic variation in this area is responsible, we will understand more about MND and this will make it easier to develop a treatment.