Featured Research

from universities, journals, and other organizations

New Gene Discovered For New Form Of Intellectual Disability

Date:
April 25, 2008
Source:
Centre for Addiction and Mental Health
Summary:
The Centre for Addiction and Mental Health has discovered a new form of intellectual disability involving mental retardation along with the eye defect retinitis pigmentosa. CAMH also discovered the previously unidentified gene that causes this disorder, CC2D2A. This scientific advance will help understand the developmental and biological processes involved in brain development, and may help identify ways to diagnose and treat intellectual disabilities.

The Centre for Addiction and Mental Health (CAMH) has discovered a new form of intellectual disability involving mental retardation (MR) along with the eye defect retinitis pigmentosa (RP). CAMH also discovered the previously unidentified gene that causes this disorder, CC2D2A. This scientific advance will help understand the developmental and biological processes involved in brain development, and may help identify ways to diagnose and treat intellectual disabilities.

Related Articles


Under the direction of Dr. John Vincent, scientist at CAMH, the team identified a mutation in CC2D2A that causes the production of a shortened protein missing the C2, or calcium-binding, domain. This protein mutation results in faulty cell function, which leads to MR with RP.

Most genes for intellectual disabilities that have been found so far are on the X chromosome. As Dr. Vincent explains, this mutation was found on the autosome (The 22 pairs of non-sex chromosomes, that make up the 46 chromosomes in the human body). Autosomal-recessive inheritance (where both mother and father carry a gene mutation on one chromosome, but both maternal and paternal copies must be passed on to the offspring to cause the disorder) is believed to be relatively common in intellectual disability, though only four genes causing this type of disability have been identified to date.

"What's really exciting is that the new gene, CC2D2A, encodes a protein with domains similar to those found in one of the previous four autosomal recessive MR genes. This link could suggest a common function that is essential for normal brain development," says Dr. Vincent.

Dr. Vincent and his team will continue exploring these initial findings, to help identify more people with mutations affecting the CC2D2A gene. This additional research will provide scientists more clues to understand, diagnose and treat intellectual disabilities.

Intellectual disabilities, also known as developmental delay or mental retardation, are a group of disorders defined by deficits in cognitive and adaptive development. Impacting between one and three percent of the population, a higher proportion of men are affected by this type of disability.

A full copy of the this paper, published in The American Journal of Human Genetics, is available under the title "CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa".


Story Source:

The above story is based on materials provided by Centre for Addiction and Mental Health. Note: Materials may be edited for content and length.


Cite This Page:

Centre for Addiction and Mental Health. "New Gene Discovered For New Form Of Intellectual Disability." ScienceDaily. ScienceDaily, 25 April 2008. <www.sciencedaily.com/releases/2008/04/080424092752.htm>.
Centre for Addiction and Mental Health. (2008, April 25). New Gene Discovered For New Form Of Intellectual Disability. ScienceDaily. Retrieved March 5, 2015 from www.sciencedaily.com/releases/2008/04/080424092752.htm
Centre for Addiction and Mental Health. "New Gene Discovered For New Form Of Intellectual Disability." ScienceDaily. www.sciencedaily.com/releases/2008/04/080424092752.htm (accessed March 5, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, March 5, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Adults Only Get The Flu Twice A Decade, Researchers Say

Adults Only Get The Flu Twice A Decade, Researchers Say

Newsy (Mar. 4, 2015) Researchers found adults only get the flu about once every five years. Scientists analyzed how a person&apos;s immunity builds up over time as well. Video provided by Newsy
Powered by NewsLook.com
New Hormone Could Protect Against Diabetes And Weight Gain

New Hormone Could Protect Against Diabetes And Weight Gain

Newsy (Mar. 4, 2015) A newly discovered hormone mimics the effects of exercise, protecting against diabetes and weight gain. Video provided by Newsy
Powered by NewsLook.com
Mount Everest Has a Poop Problem

Mount Everest Has a Poop Problem

Buzz60 (Mar. 4, 2015) With no bathrooms to use, climbers of Mount Everest have been leaving human waste on the mountain for years, and it&apos;s becoming a health issue. Mike Janela (@mikejanela) has more. Video provided by Buzz60
Powered by NewsLook.com
The Best Tips to 'Skinny' Your Home

The Best Tips to 'Skinny' Your Home

Buzz60 (Mar. 4, 2015) If you&apos;re looking to reach your health goals this season, there are a few simple tips to help you spring clean your space and improve your nutrition. Krystin Goodwin (@krystingoodwin) has the skinny on keeping a healthy home. Video provided by Buzz60
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins