About Careers Internship MedBlogs Contact us
Medindia LOGIN REGISTER
Advertisement

Stanford Researchers Identify A Gene Causing Downs Syndrome

by Medindia Content Team on July 6, 2006 at 11:32 AM
Font : A-A+

Stanford Researchers Identify A Gene Causing Downs Syndrome

Research scientists at Stanford's School of Medicine and Lucile Packard Children's Hospital claim that they might have found a possible cause for mental retardationin Down syndrome, in a gene that causes neurons in the brain to stop functioning normally, affecting attention, and memory.

The researchers in US have explained in journal Neuron, that they have identified a gene that, if over-produced, could cause certain brain cells to stop working properly. They further stated that they would now concentrate on trying to figure out the mechanism that triggers this response. They also added that they hope that this would ultimately lead for finding a way to reduce the activity of the gene so as to stop the mental decline or at least to try and reverse the effects.

Advertisement

It was explained that people with Down's syndrome have three copies of chromosome 21, instead of the normal two, which is known as trisomy 21. Many of the patients with Down's syndrome were also found to develop dementia by the age of 40, similar to early-onset Alzheimer's disease. It was also stated that in both Down's syndrome Alzheimer's of early onset, brain cells, or neurons, which are responsible for learning, memory, and attention, waste away and die.

Professor William Mobley, director of the Neuroscience Institute at Stanford University, and the lead researcher of the study said, "We've been interested in those neurons and why they get sick for some time." He explained that his team studied mouse models, and found that mice with three copies of a gene called the 'amyloid precursor protein gene', or App, which was present on the 21st chromosome, had larger neurons than the mice with two copies of the gene. This discovery has led the researchers to believe that App could be causing the cell death by disrupting the signals between cells that is essentially needed to keep them healthy. He further mentioned that though it is known that a mutation in the App gene is responsible for early onset Alzheimer's disease, having three copies of the gene could somehow have a harmful effect on the brain.
Advertisement

Professor Mobley said, "There are all of these genes on chromosome 21, and undoubtedly all of them contribute in some way to these changes that you see in people with Down's syndrome. The challenge is to say can you find specific abnormalities linked to specific genes." Stating that as the next step, the mechanism for this process should be found, and then it should be seen if there is any way by which these manifestations by the gene can be 'turned down', He said, "If we can decrease the expression of this gene, we may be able to provide something more than supportive care to people with Down's syndrome."

Professor Elizabeth Fisher, of the Institute Neurology, UCL, said, "This is a very interesting paper. This may be some way towards an explanation of why people with Down's syndrome develop the hallmark brain signs of Alzheimer's disease."

Advertisement

Advertisement
News A-Z
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
What's New on Medindia
Prevent Hacking of Medical Devices: FDA Sounds Alarm
Black Water: Benefits and Uses
World Hypertension Day 2022 - Measure Blood Pressure Accurately, Control It, Live Longer!
View all
Recommended Reading
News Archive
Date
Category
Advertisement
News Category

Medindia Newsletters Subscribe to our Free Newsletters!
Terms & Conditions and Privacy Policy.

More News on:
DNA Finger Printing 

Most Popular on Medindia

Diaphragmatic Hernia Pregnancy Confirmation Calculator Blood Pressure Calculator Loram (2 mg) (Lorazepam) How to Reduce School Bag Weight - Simple Tips Indian Medical Journals Daily Calorie Requirements Turmeric Powder - Health Benefits, Uses & Side Effects Post-Nasal Drip Nutam (400mg) (Piracetam)

Disclaimer - All information and content on this site are for information and educational purposes only. The information should not be used for either diagnosis or treatment or both for any health related problem or disease. Always seek the advice of a qualified physician for medical diagnosis and treatment. Full Disclaimer

© All Rights Reserved 1997 - 2022

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