科学家欢呼自闭症研究突破

pengxc

最近自闭症的研究有了巨大突破，据称，这个突破相当于30年前对癌症研究的革命性理解和治疗。

三个主要的研究首次发现自闭症障碍的遗传机制，其中包括那些比较常见。

科学家认为，研究结果可能标志着自闭症治疗的大转变，如同当年研究人员揭开癌症的遗传原因。

自闭症包括一组称为自闭症失调症状情形，150个儿童中大约一个受影响，主要是男性儿童。

他们的标志是缺乏能力交流和社会互动，注意力狭窄和重复性行为。

据信复杂的基因异常导致了自闭症，但确定具体基因非常困难。

虽然一些遗传变异曾牵连自闭症 ，但是具体相关尚未明确。

科学家相信，这项新的研究，其中包括对数以万计的志愿者DNA进行筛选，可能将最后揭开自闭症原因的盖子。

这表明，称为细胞粘附分子的蛋白质，在形成脑“网络”和神经细胞的沟通方面发挥关键作用，它们的异常是自闭症障碍重要原因。

根据这些发现，现在可以开发针对这些蛋白质的基因新的治疗方法。
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Scientists hail autism breakthrough

3 days ago

Autism research has hit a breakthrough point equivalent to the one that revolutionised the understanding and treatment of cancer 30 years ago, it has been claimed.

Three major studies have for the first time pinpointed genetic mechanisms underlying autistic disorders, including ones which are relatively common.

Scientists believe the findings could mark as big a transformation in tackling autism as occurred when researchers began to unravel the genetic causes of cancer.

Autism covers a group of conditions known as autism spectrum disorders (ASDs) which affect about one in 150 mostly male children.

They are marked by an impaired ability to communicate and interact socially, narrowly focused attention, and repetitive behaviour.

A complex genetic jigsaw is believed to underpin autism, but identifying the pieces has proved difficult.

Although a number of genetic variants have previously been implicated in ASDs, the connections have not been clear.

The new research, which involved screening the DNA of many thousands of volunteers, may at last have lifted the lid on the causes of autism, scientists believe.

It suggests that proteins called cell adhesion molecules, which play a vital role in shaping brain "wiring" and the way nerve cells communicate, play a key role in autism disorders.

New treatments could now be developed that target these proteins or the genes that provide the instructions for making them.

Copyright © 2009 The Press Association. All rights reserved.

qinghe

不知道要到何时才能有成功的治疗方案用于临床。

无福

我也刚看了（世界周刊），这只是众多突破中的一小个而已，现在基因疗法理我们还是比较远的。我想在可见的15年内我们只能通过培训来治疗的

pengxc

为什么不讲讲你看到的“众多突破”，和大家分享。

下面引用由无福发表的内容：

我也刚看了（世界周刊），这只是众多突破中的一小个而已，现在基因疗法理我们还是比较远的。我想在可见的15年内我们只能通过培训来治疗的

笑咪咪

看不懂

顺子妈妈

我也看了，在这期节目的最后面——《破解自闭症》
http://v.youku.com/v_show/id_XODkxMDIyOTI=.html

仰望山林

http://www.newscientist.com/article/dn17041-gene-variant-found-in-65-of-autism-cases.html



Gene variant found in 65% of autism cases



18:00 28 April 2009 by Linda Geddes
Magazine issue 2706. Subscribe and get 4 free issues.
For similar stories, visit the Mental Health and Genetics Topic Guides
The quest to understand the genetic underpinnings of autism has taken a big stride forward with the discovery of a genetic variant carried by more than two thirds of people with the disorder.

Previous studies that have identified several genes that are implicated in autism, but Hakon Hakonarson of the Children's Hospital of Philadelphia, who led the new study, says they are extremely rare and account for a very small proportion of autism. "We have for the first time identified a common variant, present in over 65 per cent of autism cases."

To identify the gene, Hakonarson and his colleagues screened DNA from more than 2500 people with autism and more than 7000 healthy controls, searching for common gene variants that were associated with the condition.

The gene lies between two other genes called CAD 10 and CAD 9, which encode adhesion molecules that enable neurons to connect and communicate with one another – and CAD 10 is already known to be expressed in the very regions of the brain that appear to malfunction in people with autism.

Unknown factors
Because other, rarer genes associated with autism also encode cell adhesion molecules, researchers had previously speculated that a breakdown in neural connections during development might lie at the root of the condition. The current study provides the first genetic evidence that a similar problem could be implicated in a large number of cases, Hakonarson says.

However, although the variant is carried by around 65 per cent of people with autism, Hakonarson calculates that it only plays a central role in around 15 per cent of cases. In the remaining cases, other unknown factors may play a greater role, he says.

The variant is carried by around 60 per cent of people without autism. "There are probably numerous factors that cause autism, and these have to interact with environmental factors in order to express the [autistic] phenotype," Hakonarson says.

Simon Baron-Cohen of the Autism Research Centre at the University of Cambridge says that the new findings add to the very large number of genes – 133 – linked to autism spectrum conditions.

"The challenge for future research will be to establish which aspects of autism they can explain, how many of these genes are necessary and sufficient to cause autism, and how they may interact with environmental factors," he says.

Unknown role
Angelica Ronald, an autism researcher at Birkbeck College, London, agrees that the findings are exciting.

"Common variants are by definition common in the general population, and may explain a proportion of risk for familial autism spectrum disorders," she says. "Importantly, the finding is replicated across two independent samples within the study, which makes it seem pretty robust. The next steps are to figure out the role these neuronal cell adhesion molecules play in leading to the specific symptoms of ASD."

Understanding the genetic underpinnings of autism is important, as it might eventually be possible to screen babies and identify those at risk, and then use early behavioural interventions to encourage their brains to develop more normally. Ultimately, drugs might also be developed that could correct the genetic deficits.

Journal reference: Nature (DOI: 10.1038/nature07999)

qinghe

Ultimately, drugs might also be developed that could correct the genetic deficits.
我们的孩子肯定等不到这样的药物的

秋爸爸

谢谢6楼链接，我正在找这个视频。昨晚罗意妈妈发短信告诉我说《世界周刊》有专栏，最后一句说的很好-"尊重，每个人都应该能做到"。
有关于自闭症方面的节目，能在CCTV黄金栏目中播出，非常好！
全片除了开头介绍了最新的科学进展外，其他部分都是剪自BBC多年前拍摄的一部纪录片《自闭之谜》。这论坛里有过多次介绍和下载地址。
小纰刺，Kanner应是美国医生，央视字幕错为奥地利（他生于那里）。另一个，阿斯伯格，才是奥地利的。此乃两位自闭症研究的先驱。事实上，阿斯伯格更该排第一，只因为他写德语论文。而肯纳写英语，甚至有人疑他得灵感于阿斯伯格，他俩都最早用了autistic术语。--鉴于近期有批肯纳和专家的一些议论，特供。

老虎娘

不管怎么样，我都由衷的高兴，突破，有突破就是好事！

王琦爸爸

快点加油吧，我都想做医生或者这方面的研究者了，着急啊

笑咪咪

刚看了视频,基因变异的说法基本认同,我想李宝宝至少是属于这一类的.
至于治疗,只能是等待了.我们是无能为力的,只是希望在大陆没有借此来骗钱的就好.
片子里有些有用的东西,是那个有绘画天赋的自闭症患者所说的话:
当没有语言的时候,他会感到这个世界更加安全(这是解说)

任何事物都让我感到紧张,周围的一切都充满了危险与困惑,有时我会淘气,就用哭闹和尖叫来应付问题. (这可以为分析问题行为提供参考)

我还是觉得,中央台如果能花钱请专家做自闭症讲座,讲讲ABA\结构化\RDI\DRI之类的,即使是深夜播出,会更有实际的价值,至少可以让那些声称可以住院治疗自闭症的医院没有市场.而现在,如果有一家医院声称可以做基因疗法治愈自闭症,治愈率只有百分之三十,我想,大约我也经受不住诱惑.至少,我可能不敢放弃这个希望,虽然这个希望不大,还有被骗的可能.

tatada

突破，好遥远~~~

宝贝他爸

突破又怎样？世界是现实的。如果一万年后地球灭完可以移民到别的星球的还不是有钱人。毕竟关注、关爱、尊重、理解才是正题。

行吟

可惜我们的这些小宝贝们是等不上喽

月下漫步者

突破？？？貌似现在什么事情动不动就可以突破了！人呀，这个话真是可以说的天花乱坠！在这个广告横飞的时代，我还是觉得真的有作用才行，光吹谁不会呀！还是那句老话，别看广告，看疗效！

鱼儿

我对孤独症是不是遗传因素造成的不关心，但对文中提到到的《“粘附”蛋白质》感兴趣：
这项研究发现了几个与孤独谱系障碍相关的基因变异。这几个基因变异都指向第五对染色体上的两个特定基因。这两个基因控制某些蛋白质的生成，而这些蛋白质的作用是帮助细胞互相粘附，使神经连接正常。
研究人员还找到了30多个与孤独谱系障碍关联程度不是那么强的基因。这些基因负责生成一些蛋白质，这些蛋白质对于脑细胞迁移到位并与周围细胞相连接起着关键性的作用。
研究人员发现，有一些基因变异出现在与细胞排废系统有关的基因中。排废系统的作用或许可让“粘附”蛋白质正常工作。
也许真的 正在一点一点解开谜团...

杰赋

关于基因致病说一直来为几个问题困扰，在以琳也讨论过几次了。 还是想找到解答。

假设说孩子的基因是来自父母的遗传，即这些变异的基因在父母的一方或双方身上已存在，那为什么在父母一代以及再上一代
没有产生自闭，也没听说过谁有自闭。 而有糖尿病或其他疾病基因的家族，患病史可向上追溯几代，由此可判断当孩子的
变异基因确实是来自父母的遗传，则后天原因如环境或食物因素，污染，重金属等仍还是起着主导作用。

假设说孩子的自闭是由于自身的基因突变，和父母无关。 那么为什么在这十几年内会突然有这么多孩子会发生这些同类型的
基因突变，而以前没有。 其原因还是得从外部因素中去找答案。

结论： 上述两种假设都指向一个共同点，即外部因素是自闭产生的关键。

找到外部环境原因要远比找到致病基因要更有意义。

期望基因修补或其他的基因疗法来治疗自闭，我这辈子是别指望了。

还有一个有关基因的问题想向大家请教。 上述最新研究认为有65%的自闭儿有类似的基因变异，且可能与神经联系有关的某种细胞粘附分子
的蛋白质异常有关，不知科学家是如何认定此种联系的。 人类间绝大多数的基因是相同的，而不同的基因决定了人与人之间的巨大差异，如外形，面貌，肤色等等。 除非经动物或人体实验证实某段基因被切除或修改后确实产生了某个变化，不然是无法认定某段基因和此基因所代表的功能间的联系。 对植物的基因改造就是这么做的。 如果仅仅只是怀疑， 这样的怀疑会有任何实际意义吗？   

秋秋妈妈

上次的'世界周刊'我没看到,第二天不知为何就是搜索不到,看了你们楼上说的我也就知道大概了.多么希望能找到自闭产生的具体真实的一致的答案!知道原因后果也就有对策了.

秋爸爸

这只是个找基因的研究。如果能为诊断所用，或者仅仅是警告性诊断，就已经算相当成功的应用了。治疗对策，早得很呢。