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研究人员发现导致智力障碍疾病的基因

发布者: 五毒 | 发布时间: 2024-6-21 03:30| 查看数: 49| 评论数: 0|



Scientists have found the genetic root of a disorder that causes intellectual disability.科学家们发现了导致一种智力障碍疾病的遗传根源。

They say the disorder may affect as many as one in 20,000 young people.他们表示,每2万名年轻人中就有1人患有这种疾病。

Those with the disorder share a number of conditions, which also include short stature, small heads, seizures and low muscle mass, said the researchers.研究人员说,患有这种疾病的人有很多共同的症状,这些症状包括身材矮小、头小、癫痫和肌肉量低。

They published their findings in Nature Medicine.他们在《自然医学》杂志上发表了其研究结果。

"We were struck by how common this disorder is when compared with other rare diseases linked to a single gene,"“同与单一基因相关的其他罕见疾病相比,这种疾病的普遍性让我们感到震惊,”

said study lead investigator Ernest Turro of the Icahn School of Medicine at Mount Sinai in New York City.纽约市西奈山伊坎医学院的首席研究员欧内斯特·特罗说。

The researchers say the findings could help doctors in identifying, the disorder.研究人员表示,该研究结果可以帮助医生识别这种疾病。

Charles Billington is a geneticist at the University of Minnesota who works with children.查尔斯·比林顿是明尼苏达大学从事儿童研究的一名遗传学家。

He was not involved in the study.他没有参与这项研究。

He said doctors sometimes do not correctly diagnose patients with disorders like these because the signs are hard to recognize.他说,医生有时无法正确诊断患有此类疾病的患者,因为这些症状很难识别。

"So certainly this wasn't something that we necessarily had a name for," he said.“当然我们不一定要给它起个名字,”他说。

Researchers said the mutations, or changes took place in a "non-coding" gene.研究人员表示,这些突变或变化发生在“非编码”基因中。

Non-coding genes do not provide directions for making proteins.非编码基因不提供制造蛋白质的指令。

Until now, all but nine of the nearly 1,500 genes known to be linked to intellectual disability are protein-coding genes.到目前为止,在已知的与智力障碍有关的近1500个基因中,除了9个基因外,其余都是蛋白质编码基因。

Most large genetic studies use technology that considers only genes that direct protein production.大多数大型基因研究使用的技术只考虑指导蛋白质产生的基因。

This study used more complete "whole-genome" data from about 77,000 people who took part in the British government's 100,000 Genomes Project.这项研究使用了更完整的“全基因组”数据,这些数据来自参与英国政府“10万人基因组计划”的7.7万人。

About 5,500 had intellectual disability.其中大约5500人患有智力障碍。

The rare mutations researchers found in the gene, called RNU4-2, were strongly associated with the potential for having intellectual disability.研究人员在这种名为RNU4-2的基因中发现的罕见突变与患智力障碍的可能性密切相关。

Andrew Mumford is research director of the South West England NHS Genomic Medicine Service.安德鲁·芒福德是西南英格兰NHS基因组医学服务中心的研究主任。

He helped write the study.他帮助撰写了这项研究。

He said the finding "opens the door to diagnoses" for thousands of families.他说,这一研究结果为数千个家庭“打开了诊断的大门”。

More research is needed, Mumford said.芒福德称这需要进行更多研究。

How the mutation causes the disorder remains unclear and there is no treatment.突变如何导致这种疾病尚不清楚,也没有针对这种疾病的治疗方法。

But Billington said laboratories should be able to offer testing for this condition soon.但比林顿表示,实验室应该很快就能够提供针对这种情况的检测。

And researchers said families should be able to find and support each other – and know they are not alone.研究人员表示,家庭之间应该能够遇到彼此并相互支持,知道自己并不孤单。

I'm Gregory Stachel.我是格雷戈里·斯塔切尔。


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