一份來自巴黎路透社 (PARIS Reuters)的消息指出,，法國的科學(xué)家經(jīng)由罹患自閉癥 (autism)病童的遺傳序列,，找到了和自閉癥發(fā)生有高度相關(guān)的基因突變，相關(guān)的人士認為這一個發(fā)現(xiàn),，應(yīng)該有助于了解這個疾病發(fā)生的原因,。
據(jù)了解這次研究人員的研究目標，放在俗稱泛自閉癥障礙癥候群 (autism spectrum disorders,；簡稱 ASD)的身上,，據(jù)統(tǒng)計這種疾病的患者多在 30個月大左右，就會出現(xiàn)一些臨床上的特征,，像是語言或行為上的障礙等,，不過由于這個年紀的病童，正值生長發(fā)育與學(xué)習(xí)的關(guān)鍵時期,，因此這樣的疾病往往導(dǎo)致嚴重的學(xué)習(xí)障礙,，高度的影響社交能力。臨床上還有發(fā)現(xiàn)少數(shù)這類的病童中,，雖然被自閉癥所困擾,，但在像是藝術(shù),、音樂與數(shù)理能力上，有異于其它孩童的成就,，但這畢竟是少數(shù)的特例，目前科學(xué)家不但不能掌握真正導(dǎo)致發(fā)病的原因,，就連臨床醫(yī)師也沒有有效治療的方法，可以避免這個疾病的發(fā)生,。
這次法國巴斯德研究所 (Pasteur Institute)Thomas Bourgeron博士所領(lǐng)導(dǎo)的研究團隊，追蹤分析了 200名泛自閉癥障礙癥候群患者的遺傳序列,，研究人員發(fā)現(xiàn)一個稱為 SHANK3的基因突變,，重復(fù)的出現(xiàn)在 3個多人罹患自閉癥的家族里,，雖然家族個體間擁有著程度不一的泛自閉癥障礙癥候群,，但他們共有的特征是 SHANK3基因的缺失，目前研究人員雖然只掌握到這個基因缺陷的特征,，但這個發(fā)現(xiàn)也使的自閉癥的治療,，露出了解開迷團的曙光,。
英文原文：
Scientists identify gene mutation in autism
French scientists have identified genetic mutations in a small number of children with autism which could provide insight into the biological basis of the disorder.
They sequenced a gene called SHANK3 in more than 200 people with autism spectrum disorders (ASD), which includes autism, and found mutations in the gene in members of three families.
ASD covers a range of problems that affect communication, social interaction, verbal skills and behavior.
"These mutations concern only a small number of individuals, but they shed light on one gene ... that is involved in autism spectrum disorders," Thomas Bourgeron, of the Pasteur Institute in Paris, said in a report in the journal Nature Genetics.
ASD, which affect six out of 1,000 children, range from mild to severe forms. The disorders are caused by chromosomal rearrangements in 3 to 6 percent of cases.
In people with cognitive deficits and with autistic behavior a part of their chromosome 22 is often affected. That region contains the SHANK3 gene.
In all three families identified in the study, the researchers found they had various types of mutations in the gene. Two brothers in one family had small deletions, while another child in a different family had significant deletions.
A girl with a deletion of SHANK 3 in the third family suffered from autism while her brother, who had an additional copy of the gene, had a mild form of autism called Asperger syndrome.
The cause of autism is unknown. It usually develops before the age of 30 months. A minority of autistic children, who are known as autistic savants, show remarkable artistic, musical or mathematical skills.
The protein encoded by SHANK3 interacts with other proteins called neuroligins, which have a role in giving impulses to the brain, spinal column and nerves.
