生物谷報(bào)道： 科學(xué)家最近首次確定了一種常見(jiàn)的能造成成人聽(tīng)力下降的基因,，而導(dǎo)致的這種疾病被稱為耳硬化癥,。在法國(guó)尼斯舉行的歐洲人類基因?qū)W會(huì)年會(huì)上，來(lái)自比利時(shí)Antwerp大學(xué)醫(yī)學(xué)基因?qū)W系的Melissa Thys公布了結(jié)果,，她表示這一成果將幫助尋找治療耳硬化癥的手段,。該疾病在每250人中發(fā)生一例。
耳硬化癥由多種因素造成,，其中包括基因和環(huán)境因子的相互作用,。由于中耳骨骼的生長(zhǎng)導(dǎo)致傳向內(nèi)耳的聲波被阻斷，從而造成聽(tīng)力逐漸減退,。雖然目前導(dǎo)致發(fā)病的病因尚不清楚,，但是Thys在會(huì)議上宣布其中的一個(gè)病因基因已經(jīng)得到確定。
Thys說(shuō)：“這或許將幫助尋找到更好的治療方案,。目前最好的選擇是進(jìn)行手術(shù),。但是，并不是所有造成聽(tīng)力損失的病因都能通過(guò)手術(shù)得到恢復(fù),。由于這一疾病通過(guò)中耳不正常的骨生長(zhǎng)造成,，而基因是生長(zhǎng)因子之一，因此這是潛在的治療方法,。”
Thys和她的小組研究了這一被稱為T(mén)GBF1的基因：它在胚胎的耳部發(fā)育過(guò)程中起著重要作用,，并且在骨硬化癥中得到表達(dá)。小組使用了單核苷多態(tài)（SNP）技術(shù)分析了比利時(shí),、荷蘭的病人及對(duì)照組人群,。結(jié)果發(fā)現(xiàn)在TGBF1導(dǎo)致了一個(gè)氨基酸改變，這一結(jié)果在針對(duì)法國(guó)人群的分析中也得到了確認(rèn),。
Thys表示：“以上研究非常重要,，它意味著我們首次確認(rèn)了可能導(dǎo)致耳硬化癥的基因。并且可以用這一基因來(lái)防止耳硬化癥發(fā)生,。” （援引教育部科技發(fā)展中心）
英文原文：
Physorg.com,， Published: 04:17 EST, June 17, 2007
Gene responsible for common hearing loss identified for first time
A gene responsible for the single most common cause of hearing loss among white adults, otosclerosis, has been identified for the first time, a scientist told the annual conference of the European Society of Human Genetics in Nice, France. Ms Melissa Thys, from the Department of Medical Genetics, University of Antwerp, Belgium, said that this finding may be a step towards new treatments for otosclerosis, which affects approximately 1 in 250 people.
Otosclerosis is a multifactorial disease, caused by an interaction of genetic and environmental factors. The outcome is a progressive hearing loss as the growing bone in the middle ear interrupts the sound waves passing to the inner ear. While the causative factors remain unknown, now one of the genetic components has been identified, Ms Thys told the conference.
“The gene in which the variant is located points to a pathway that contributes to the disease. This may be a lead for better forms of treatment in the future; currently the best option is an operation. However, there is often an additional component of hearing loss which can’t be restored by surgery. As the gene involved is a growth factor, and the disease manifests itself by the abnormal growth of bone in the middle ear, it may have a large potential for therapy”, she said. Improved understanding may also lead to prevention strategies.
Ms Thys and her team decided to study a gene called TGBF1 which they already knew had non-genetic indications of involvement in otosclerosis: it plays a role during embryonic development of the ear and is expressed in otosclerotic bone. They used SNP (single nucleotide polymorphism) analysis, or looking at DNA sequence variations occurring in a single nucleotide, A, T, C or G, to study a large patient and control population from Belgium and The Netherlands. They found significant results for an amino acid changing SNP inTGBF1, and that this remained significant after correcting for multiple testing. Analysis of a large French group showed the same association.
“Combining the data from both groups with a common odds ratio gave a very significant result, from which we were able to conclude that we were the first to identify a gene that influences the susceptibility for otosclerosis”, said Ms Thys. “And, as further evidence, we were also able to show that a more active variant of this gene is protective against the disease.”
Source: European Society of Human Genetics
