生物谷报道： 科学家最近首次确定了一种常见的能造成成人听力下降的基因，而导致的这种疾病被称为耳硬化症。在法国尼斯举行的欧洲人类基因学会年会上，来自比利时Antwerp大学医学基因学系的Melissa Thys公布了结果，她表示这一成果将帮助寻找治疗耳硬化症的手段。该疾病在每250人中发生一例。
耳硬化症由多种因素造成，其中包括基因和环境因子的相互作用。由于中耳骨骼的生长导致传向内耳的声波被阻断，从而造成听力逐渐减退。虽然目前导致发病的病因尚不清楚，但是Thys在会议上宣布其中的一个病因基因已经得到确定。
Thys说：“这或许将帮助寻找到更好的治疗方案。目前最好的选择是进行手术。但是，并不是所有造成听力损失的病因都能通过手术得到恢复。由于这一疾病通过中耳不正常的骨生长造成，而基因是生长因子之一，因此这是潜在的治疗方法。”
Thys和她的小组研究了这一被称为TGBF1的基因：它在胚胎的耳部发育过程中起着重要作用，并且在骨硬化症中得到表达。小组使用了单核苷多态（SNP）技术分析了比利时、荷兰的病人及对照组人群。结果发现在TGBF1导致了一个氨基酸改变，这一结果在针对法国人群的分析中也得到了确认。
Thys表示：“以上研究非常重要，它意味着我们首次确认了可能导致耳硬化症的基因。并且可以用这一基因来防止耳硬化症发生。” （援引教育部科技发展中心）
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
