目前Von Recklinghausen病的治疗知识是什么?

罗莎莉:自从我在20世纪80年代末开始参与进来以来，发生了很多事情。他们在那个时候发现了这个基因，所以他们知道这个基因在哪里，他们也发现了一些关于这个基因的功能。基因产物就是这个肿瘤抑制因子。简单地说，它能控制细胞。所以，它阻止了它们过度生长和分裂。这项研究涉及多个领域。它变成了学习问题，这是这种情况最常见的表现之一。通常是轻微的学习问题。研究已经进入肿瘤——包括良性的和恶性的——并且已经进入了骨骼。我认为这些都是很大的领域。 The two things that are being done, they're looking at underlying molecular mechanisms so that they can target treatment to the particular problem, and they're also looking quite carefully at something that is not quite so buzzy, but very important, which is outcome measures. So, it's no good having a treatment if you don't know how to measure whether it's been beneficial or not. When you look at outcome measures, you want to look at things that are objective have you shrunk the size of something, have you improved intelligence. But importantly, you want the patient's point of view because that doesn't always coincide with what you see as an improvement.

在治疗这些类型的肿瘤和疾病方面有什么重大进展吗?

罗莎莉:是的，他们开始来了。我认为一个人总是需要谨慎的。以良性神经纤维瘤为例，这些肿块会造成很多问题因为它们在美容方面很困难。它们会导致神经系统问题。它们会引起疼痛和出血。他们用老鼠模型来筛选可能阻断这些相当复杂的肿瘤形成途径的潜在药物，这是非常好的疾病模型。有一些药物已经被尝试过，但收效甚微。有一种新药叫做MEK抑制剂。MEK只是激活肿瘤形成途径上的信号之一。早期的研究结果表明它们能使神经纤维瘤缩小一点。 I wouldn't say massively, but a little bit promising. So, the hope is to increase the clinical trials for that. From the point of view of learning, they've tried statins - statins are buzzy for lots of reasons - but it was thought again from the mouse models that statins might help with improving learning. They've done a couple of trials on children and so far, there haven't been huge beneficial results. What this is saying is that it's a huge step forward to understand a bit more of the molecular mechanisms underlying complications. These are early stages in treatment where people are trying to have certain blocking different bits of this very complex pathway. There are treatments available. Are they effective? At this stage, it's quite early to say.

感谢听众安·霍克和罗莎莉·费纳教授。如果你有任何关于基因，DNA和遗传学的问题，可以发邮件给我genetics@thenakedscientists.com．