Medindia LOGIN REGISTER
Medindia
Advertisement

Scientists Identify Cause for Down Syndrome

by Sheela Philomena on March 25, 2013 at 11:45 AM
 Scientists Identify Cause for Down Syndrome

In a recent study it was found that extra chromosome inherited in Down syndrome-chromosome 21-alters brain and body development.

Researchers at Sanford-Burnham Medical Research Institute (Sanford-Burnham) have new evidence that points to a protein called sorting nexin 27, or SNX27.

Advertisement

SNX27 production is inhibited by a molecule encoded on chromosome 21.

The study shows that SNX27 is reduced in human Down syndrome brains.

The extra copy of chromosome 21 means a person with Down syndrome produces less SNX27 protein, which in turn disrupts brain function.
Advertisement

What's more, the researchers showed that restoring SNX27 in Down syndrome mice improves cognitive function and behavior.

"In the brain, SNX27 keeps certain receptors on the cell surface-receptors that are necessary for neurons to fire properly," Huaxi Xu, Ph.D., professor in Sanford-Burnham's Del E. Webb Neuroscience, Aging and Stem Cell Research Center and senior author of the study, said.

"So, in Down syndrome, we believe lack of SNX27 is at least partly to blame for developmental and cognitive defects," Xu said.

The study is published in the journal Nature Medicine.

Source: ANI
Font : A-A+

Advertisement

Advertisement
Advertisement

Latest Research News

New Immunotherapy for Psoriasis & Vitiligo
Scientists identified mechanisms governing immune cells, selectively removing troublemakers to reshape skin immunity. Benefits those with psoriasis, vitiligo.
2050 Forecast: 1.06 Billion Individuals to Face 'Other' Musculoskeletal Disorders
By 2050, an anticipated increase from 494 million cases in 2020 to 1.06 billion people with musculoskeletal disabilities is expected.
Gene Therapies Can Disrupt Gaucher Disease Drug Market
Experts consulted by GlobalData anticipate a significant overhaul in the Gaucher disease scenario because of forthcoming gene therapies in development.
NASH Cases Expected to Hit 26.55 Million in 7MM by 2032
Within the seven major markets, 12% to 20% of diagnosed prevalent NASH cases present severe liver damage (stage 4 liver fibrosis), denoting cirrhosis.
Can Sleep Brain Waves Defend Against Epileptic Activity?
Memory deficits in individuals with epilepsy, especially cognitive difficulties, might partially stem from the transient impairments caused by these slow waves.
View All
This site uses cookies to deliver our services.By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use  Ok, Got it. Close
×

Scientists Identify Cause for Down Syndrome Personalised Printable Document (PDF)

Please complete this form and we'll send you a personalised information that is requested

You may use this for your own reference or forward it to your friends.

Please use the information prudently. If you are not a medical doctor please remember to consult your healthcare provider as this information is not a substitute for professional advice.

Name *

Email Address *

Country *

Areas of Interests