Researchers Find Gene behind Disorder Causing Intellectual Disability
2024-06-11
LRC
TXT
大字
小字
滚动
全页
1Scientists have found the genetic root of a disorder that causes intellectual disability.
2They say the disorder may affect as many as one in 20,000 young people.
3Those with the disorder share a number of conditions, which also include short stature, small heads, seizures and low muscle mass, said the researchers.
4They published their findings in Nature Medicine.
5"We were struck by how common this disorder is" when compared with other rare diseases linked to a single gene, said study lead investigator Ernest Turro of the Icahn School of Medicine at Mount Sinai in New York City.
6The researcher say the findings could help doctors in identifying, the disorder.
7Charles Billington is a geneticist at the University of Minnesota who works with children.
8He was not involved in the study.
9He said doctors sometimes do not correctly diagnose patients with disorders like these because the signs are hard to recognize.
10"So certainly this wasn't something that we necessarily had a name for," he said.
11Researchers said the mutations, or changes took place in a "non-coding" gene.
12Non-coding genes do not provide directions for making proteins.
13Until now, all but nine of the nearly 1,500 genes known to be linked to intellectual disability are protein-coding genes.
14Most large genetic studies use technology that considers only genes that direct protein production.
15This study used more complete "whole-genome" data from about 77,000 people who took part in the British government's 100,000 Genomes Project.
16About 5,500 had intellectual disability.
17The rare mutations researchers found in the gene, called RNU4-2, were strongly associated with the potential for having intellectual disability.
18Andrew Mumford is research director of the South West England NHS Genomic Medicine Service.
19He helped write the study.
20He said the finding "opens the door to diagnoses" for thousands of families.
21More research is needed, Mumford said.
22How the mutation causes the disorder remains unclear and there is no treatment.
23But Billington said laboratories should be able to offer testing for this condition soon.
24And researchers said families should be able to find and support each other - and know they are not alone.
25I'm Gregory Stachel.
1Scientists have found the genetic root of a disorder that causes intellectual disability. They say the disorder may affect as many as one in 20,000 young people. 2Those with the disorder share a number of conditions, which also include short stature, small heads, seizures and low muscle mass, said the researchers. They published their findings in Nature Medicine. 3"We were struck by how common this disorder is" when compared with other rare diseases linked to a single gene, said study lead investigator 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. 4Charles 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 disorders like these because the signs are hard to recognize. 5"So certainly this wasn't something that we necessarily had a name for," he said. 6Researchers said the mutations, or changes took place in a "non-coding" gene. Non-coding genes 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. 7Most large genetic studies use technology that considers only genes that direct protein production. 8This 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. 9The rare mutations researchers found in the gene, called RNU4-2, were strongly associated with the potential for having intellectual disability. 10Andrew 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. 11More research is needed, Mumford said. How the mutation causes the disorder remains unclear and there is no treatment. 12But 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. 13I'm Gregory Stachel. 14Laura Ungar reported this story for The Associated Press. Gregory Stachel adapted it for VOA Learning English. 15_____________________________________________ 16Words in This Story 17intellectual - adj. of or relating to the ability to think in a logical way 18stature - n. a person's height 19associated - v. When one thing is associated with another, they happen together or are related or connected in some way. 20potential - adj. capable of becoming real 21genetic code - n. the instructions contained in a gene that tell a cell how to make a specific protein