Navigation Links
Study adds to evidence that autism has genetic basis
Date:5/1/2010

VANCOUVER, BRITISH COLUMBIA Although there is no known cause of autism, studies have shown that mutations in several genes are associated with the developmental brain disorder. New research has uncovered two additional genes that may be involved with autism.

Investigators will present their findings on Sunday, May 2 at the Pediatric Academic Societies (PAS) annual meeting in Vancouver, British Columbia, Canada.

An estimated one in 110 U.S. children has autism, which affects behavior, social skills and communication.

The risk for the disorder is higher among siblings of an affected child than in the general population, indicating that autism may be inherited, explained study co-author Ning Lei, PhD, a researcher at Princeton University and the Institute for Advanced Studies.

Dr. Lei and her colleagues analyzed data from the Autism Genetic Resource Exchange (AGRE) on 943 families, most of whom had more than one child diagnosed with autism and had undergone genetic testing. Investigators compared the prevalence of 25 gene mutations in the AGRE families with a control group of 6,317 individuals without developmental or neuropsychiatric illness.

Dr. Lei's group identified mutations in four genes within the AGRE families. Two of the genes previously were shown to be associated with autism and often are involved in forming or maintaining neural synapses the point of connection between individual neurons.

One of the new genes identified was neural cell adhesion molecule 2 (NCAM2). NCAM2 is expressed in the hippocampus of the human brain a region previously associated with autism.

"While mutations in the NCAM2 gene were found in a small percentage of the children that we studied, it is fascinating that this finding continues a consistent story that many of the genes associated with autism are involved with formation or function of the neural synapse," Dr. Lei said. "Studies such as this provide evidence that autism is a genetically based disease that affects neural connectivity."

The researchers hypothesize that a substantial percentage of children with autism will be shown to have a mutation in one or more of the many genes necessary for normal function of the synapse.

The study also showed that some parents and siblings of children with autism have the NCAM2 mutation but do not have the disorder themselves. This suggests that other environmental or genetic factors are involved in causing autism in susceptible individuals.

"These results help the public understand that autism is a very complex disorder, much like cancer," Dr. Lei said, "and no single gene or gene environment is likely to be causative in most cases."

Dr. Lei will present the study results with Daniel A. Notterman, M.D., M.A., FAAP, professor of pediatrics, biochemistry and molecular biology at Penn State College of Medicine. Dr. Notterman was associated with the faculty of Princeton University at the time these studies were performed.


'/>"/>

Contact: Susan Martin
ssmartin@aap.org
847-434-7877
American Academy of Pediatrics
Source:Eurekalert

Related biology news :

1. Childhood obesity indicates greater risk of school absenteeism, Penn study reveals
2. A study by the MUHC and McGill University opens a new door to understanding cancer
3. Study begins to reveal clues to the cause and progression of sepsis
4. Clones on task serve greater good, evolutionary study shows
5. New study warns limited carbon market puts 20 percent of tropical forest at risk
6. New study examines how rearing environment can alter navigation
7. Study links cat disease to flame retardants in furniture and to pet food
8. New continent and species discovered in Atlantic study
9. Study shows link between alcohol consumption and hiv disease progression
10. Feeling hot, hot, hot: New study suggests ways to control fever-induced seizures
11. Study finds environmental tests help predict hospital-acquired Legionnaires disease risk
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/3/2017)... , April 3, 2017  Data ... precision engineering platform, detected a statistically significant ... product prior to treatment and objective response ... the potential to predict whether cancer patients ... to treatment, as well as to improve ...
(Date:3/30/2017)... The research team of The Hong Kong ... identification by adopting ground breaking 3D fingerprint minutiae recovery and matching ... and accuracy for use in identification, crime investigation, immigration control, security ... ... A research team led by ...
(Date:3/29/2017)... the health IT company that operates the largest health ... today announced a Series B investment from BlueCross BlueShield ... investment and acquisition accelerates higi,s strategy to create the ... activities through the collection and workflow integration of ambient ... secures data today on behalf of over 36 million ...
Breaking Biology News(10 mins):
(Date:10/10/2017)... ... October 10, 2017 , ... ... advancing targeted antibody-drug conjugate (ADC) therapeutics, today confirmed licensing rights that give ... Liposomal Nanoparticle), a technology developed in collaboration with Children’s Hospital Los Angeles ...
(Date:10/10/2017)... Oct. 10, 2017 SomaGenics announced the receipt ... to develop RealSeq®-SC (Single Cell), expected to be the ... RNAs (including microRNAs) from single cells using NGS methods. ... need to accelerate development of approaches to analyze the ... "New techniques for measuring levels of mRNAs in ...
(Date:10/9/2017)... ... 2017 , ... The award-winning American Farmer television series will feature 3 Bar ... Tuesdays at 8:30aET on RFD-TV. , With global population estimates nearing ten billion ... continue to feed a growing nation. At the same time, many of our valuable ...
(Date:10/7/2017)... ... October 06, 2017 , ... ... and applications consulting for microscopy and surface analysis, Nanoscience Instruments is now ... Analytical offers a broad range of contract analysis services for advanced applications. ...
Breaking Biology Technology: