Researchers Find Gene behind Disorder Causing Intellectual Disability

Researchers Find Gene¹ behind Disorder² Causing Intellectual Disability

Scientists have found the genetic³ root of a disorder that causes intellectual disability. They say the disorder may affect as many as one in 20,000 young people.

Those with the disorder share a number of conditions, which also include short stature⁴, small heads, seizures⁵ and low muscle mass, said the researchers. They published their findings in Nature Medicine.

“We were struck by how common this disorder is” when compared with other rare diseases linked to a single gene, said study lead investigator⁶ Ernest Turro of the Icahn School of Medicine at Mount Sinai in New York City. The researcher say the findings could help doctors in identifying, the disorder.

Charles Billington is a geneticist at the University of Minnesota who works with children. He was not involved in the study. He said doctors sometimes do not correctly diagnose patients with disorders⁷ like these because the signs are hard to recognize.

“So certainly this wasn’t something that we necessarily had a name for,” he said.

Researchers said the mutations, or changes took place in a “non-coding” gene. Non-coding genes⁹ do not provide directions for making proteins. Until now, all but nine of the nearly 1,500 genes known to be linked to intellectual disability are protein-coding genes.

Most large genetic studies use technology that considers only genes that direct protein production.

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. About 5,500 had intellectual disability.

The rare mutations researchers found in the gene, called RNU4-2, were strongly associated with the potential for having intellectual disability.

Andrew Mumford is research director of the South West England NHS Genomic Medicine Service. He helped write the study. He said the finding “opens the door to diagnoses” for thousands of families.

More research is needed, Mumford said. How the mutation⁸ causes the disorder remains¹⁰ unclear and there is no treatment.

But Billington said laboratories should be able to offer testing for this condition soon. And researchers said families should be able to find and support each other – and know they are not alone.

Words in This Story

intellectual – adj. of or relating to the ability to think in a logical way

stature – n. a person's height

associated – v. When one thing is associated with another, they happen together or are related or connected in some way.

potential – adj. capable of becoming real

genetic code – n. the instructions contained in a gene that tell a cell how to make a specific protein

1 gene   

n.遗传因子，基因

参考例句：

• A single gene may have many effects.单一基因可能具有很多种效应。
• The targeting of gene therapy has been paid close attention.其中基因治疗的靶向性是值得密切关注的问题之一。

2 disorder   

n.紊乱，混乱；骚动，骚乱；疾病，失调

参考例句：

• When returning back,he discovered the room to be in disorder.回家后，他发现屋子里乱七八糟。
• It contained a vast number of letters in great disorder.里面七零八落地装着许多信件。

3 genetic   

adj.遗传的，遗传学的

参考例句：

• It's very difficult to treat genetic diseases.遗传性疾病治疗起来很困难。
• Each daughter cell can receive a full complement of the genetic information.每个子细胞可以收到遗传信息的一个完全补偿物。

4 stature   

n.（高度）水平，（高度）境界，身高，身材

参考例句：

• He is five feet five inches in stature.他身高5英尺5英寸。
• The dress models are tall of stature.时装模特儿的身材都较高。

5 seizures   

n.起获( seizure的名词复数 )；没收；充公；起获的赃物

参考例句：

• Seizures of illicit drugs have increased by 30% this year. 今年违禁药品的扣押增长了30%。 来自《简明英汉词典》
• Other causes of unconsciousness predisposing to aspiration lung abscess are convulsive seizures. 造成吸入性肺脓肿昏迷的其他原因，有惊厥发作。 来自辞典例句

6 investigator   

n.研究者，调查者，审查者

参考例句：

• He was a special investigator for the FBI.他是联邦调查局的特别调查员。
• The investigator was able to deduce the crime and find the criminal.调查者能够推出犯罪过程并锁定罪犯。

7 disorders   

n.混乱( disorder的名词复数 )；凌乱；骚乱；（身心、机能）失调

参考例句：

• Reports of anorexia and other eating disorders are on the increase. 据报告，厌食症和其他饮食方面的功能紊乱发生率正在不断增长。 来自《简明英汉词典》
• The announcement led to violent civil disorders. 这项宣布引起剧烈的骚乱。 来自《简明英汉词典》

8 mutation   

n.变化，变异，转变

参考例句：

• People who have this mutation need less sleep than others.有这种突变的人需要的睡眠比其他人少。
• So far the discussion has centered entirely around mutation in the strict sense.到目前为止，严格来讲，讨论完全集中于围绕突变问题上。

9 genes   

n.基因( gene的名词复数 )

参考例句：

• You have good genes from your parents, so you should live a long time. 你从父母那儿获得优良的基因，所以能够活得很长。 来自《简明英汉词典》
• Differences will help to reveal the functions of the genes. 它们间的差异将会帮助我们揭开基因多种功能。 来自英汉非文学 - 生命科学 - 生物技术的世纪

10 remains   

n.剩余物，残留物；遗体，遗迹

参考例句：

• He ate the remains of food hungrily.他狼吞虎咽地吃剩余的食物。
• The remains of the meal were fed to the dog.残羹剩饭喂狗了。