About Careers Internship MedBlog Contact us
Medindia LOGIN REGISTER
Advertisement

New Target for Assessing Genes Linked to Autism Identified

by Rajshri on October 23, 2009 at 7:54 PM
Font : A-A+

 New Target for Assessing Genes Linked to Autism Identified

A new genetic signature that correlates strongly with autism and which does not involve changes to the DNA sequence itself has been uncovered by researchers at Duke University Medical Center. Rather, the changes are in the way the genes are turned on and off. The finding may suggest new approaches to diagnosis and treatment of autism.

The researchers found higher-than-usual numbers of gene-regulating molecules called methyl groups in a region of the genome that regulates oxytocin receptor expression in people with autism.

Advertisement

"In both blood samples and brain tissue, the methylation status of specific nucleotides in the oxytocin receptor gene is significantly higher in someone with autism, about 70 percent, compared to the control population, where it is about 40 percent," said co-lead author Simon G. Gregory, Ph.D., assistant professor in the Duke Department of Medicine. The work appears in BMC Medicine journal online.

Oxytocin is a hormone secreted into the bloodstream from the brain, and also released within the brain, where it has a bearing on social interaction. Previous studies have shown that giving oxytocin can improve an autistic person's social engagement behavior and it is being explored as a potential treatment of the disorder. Higher methylation of the oxytocin receptor gene may make a person less sensitive to the hormone.
Advertisement

The findings by Dr. Gregory and his colleagues will potentially provide information about which individuals will respond better to treatment with oxytocin.

"We are excited about our findings because they represent one of the few occasions in which a mechanism other than genetic susceptibility or genome instability is implicated in the development of autism, Gregory said.

"These results provide a possible explanation of why social isolation forms part of the autism spectrum - because an autistic individual's ability to respond to oxytocin may be limited," Gregory said. " Oxytocin has been tied to levels of trust and ability to read social cues."

Although the methylation status of the OXTR gene is not a definitive diagnosis of autism by itself, a test for methylation might be used along with other clinical tests for diagnosing autism. Gregory said that methylation-modifying drugs also may be a new avenue for treatments.

Though not a change to the DNA sequence itself, methylation status can be inherited, by what is known as epigenetics - inherited changes in gene regulation.

"The epigenetic link to autism is extremely exciting as it provides another opportunity for us to explore the heritability of this disorder and argues the importance of exploring epigenetic markers in complex disease," said co-lead author Jessica J. Connelly, Ph.D., assistant professor in the Department of Medicine at the University of Virginia.

The identification of differences in methylation status of OXTR in people with and without autism was discovered through a genome-wide study of genomic instability.

The researchers examined 119 individuals with autism to identify genomic rearrangements. One of these individuals had a DNA deletion of a region containing the OXTR gene. The group then examined the genomic make-up of the individual's family members and established that the boy with the deletion had a brother with autism who didn't have the deletion. (Their mother had symptoms of an obsessive-compulsive disorder, but not autism; autism and OCD share the symptom of intensely repetitive thoughts and behaviors).

The researchers examined the brother's genome and found instances of elevated methylation. With this discovery, they looked again at independent collections of blood samples and brain tissue from a repository of specimens, and found consistent differences in OXTR methylation.



Source: Eurekalert
RAS
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
H1N1 Influenza Prevention in Children: What Parents Need to Know
Dietary Factors Responsible for Dihydrotestosterone (DHT) Production and Hair Loss
Test Your Knowledge About Chromosomes?
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:
Autism Rett Syndrome Weaver Syndrome Acquired Epileptiform Aphasia Sensory Processing Disorder (SPD) 

Most Popular on Medindia

Daily Calorie Requirements Drug Side Effects Calculator How to Reduce School Bag Weight - Simple Tips Pregnancy Confirmation Calculator Calculate Ideal Weight for Infants Hearing Loss Calculator Drug - Food Interactions Vent Forte (Theophylline) Color Blindness Calculator Indian Medical Journals
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
×

New Target for Assessing Genes Linked to Autism Identified 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