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【medical-news】研究人员发现了与重度精神发育迟
Public release date: 20-Mar-2007
Severe mental retardation gene mutation identified
Genes related to other retardation syndromes are expected to be found
BETHESDA, Md. ?Researchers have identified a novel gene mutation that causes X-linked mental retardation for which there was no previously known molecular diagnosis, according to an article to be published electronically on Tuesday, March 20, 2007 in The American Journal of Human Genetics.
Investigators F. Lucy Raymond (Cambridge Institute of Medical Research, University of Cambridge, Cambridge, UK) and Patrick S. Tarpey (Wellcome Trust Sanger Institute, Hixton, UK) describe the ZDHHC9 gene found in those with severe retardation as being mutated to the point of entirely losing function.
"ZDHHC9 is a novel gene," explains Dr. Raymond. "This gene would not have been predicted to play a role in mental retardation based on the previous genetics work. It was found only because we were systematically looking at all the genes on the X chromosome irrespective of what they do."
X-linked mental retardation is severe. Some patients require total care and may not have language ability. The condition runs in families and only affects the male offspring. So far only a few of these genes have been identified.
Working through a large, international collaboration, the researchers collected genetic samples from 250 families in which at least two boys have mental retardation to help identify novel genes that cause X-linked mental retardation. The investigators systematically analyzed the X chromosome for gene mutations.
Dr. Raymond says that the families are receiving information from the study and using it to make decisions in their lives. "We cannot currently make their children better, but knowing that we found a genetic abnormality gives them an explanation for what has happened," she explains. "We had one family that said this knowledge was the best news they had ever been given."
"We have identified the cause of problems in certain families and are able to tell whether or not women are carriers of the condition," Dr. Raymond comments. "Consequently, the families that had previously chosen to forego having children because there was no method of testing can now be tested. We have been able to test a substantial number of people to identify whether are not they are carriers, and we can offer prenatal testing to the carriers who want it."
In the broader picture, this research is not only benefiting families with X-linked mental retardation, but it is also defining the genes involved in intellectual development. "If you find genes that are abnormal, it is a reasonable assumption that the identified genes are involved in the formation of normal intellectual processing as well," concludes Dr. Raymond.
Now that a posttranslational modification enzyme has been found to be mutated in X-linked mental retardation, the researchers expect to find similar genes related to other mental retardation syndromes. 人已认领该文编译，48小时后若未提交译文，请其他战友自由认领。 http://www.eurekalert.org/pub_releases/2007-03/uocp-smr031907.php
Public release date: 20-Mar-2007
发表日期：2007－3－20
Severe mental retardation gene mutation identified
重度精神发育迟滞的基因突变已经被鉴定出来了。
Genes related to other retardation syndromes are expected to be found
与其它的发育迟滞综合症相关的基因也有希望被找到。
BETHESDA, Md. ?Researchers have identified a novel gene mutation that causes X-linked mental retardation for which there was no previously known molecular diagnosis, according to an article to be published electronically on Tuesday, March 20, 2007 in The American Journal of Human Genetics.
贝塞斯达（马里兰州），研究者已经鉴定出一个异常的基因突变可以导致X染色体连锁的精神发育迟滞，而对于这种疾病以前没有明确的分子水平的诊断，根据一篇将要发表在2007年3月20日星期二的网上版《美国人类遗传学杂志》上的文章所说。
Investigators F. Lucy Raymond (Cambridge Institute of Medical Research, University of Cambridge, Cambridge, UK) and Patrick S. Tarpey (Wellcome Trust Sanger Institute, Hixton, UK) describe the ZDHHC9 gene found in those with severe retardation as being mutated to the point of entirely losing function.
研究者F. Lucy Raymond（英国剑桥大学剑桥医学研究中心）和Patrick S. Tarpey（英国Hixton的维尔康姆基金会桑格研究所）叙述了他们在重度精神发育迟滞患者体内发现了ZDHHC9基因的突变并且到达了完全丧失功能的程度。
"ZDHHC9 is a novel gene," explains Dr. Raymond. "This gene would not have been predicted to play a role in mental retardation based on the previous genetics work. It was found only because we were systematically looking at all the genes on the X chromosome irrespective of what they do."
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作者:admin@医学,生命科学 2011-01-18 05:14
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