About Careers MedBlog Contact us
Medindia LOGIN REGISTER
Advertisement

Key Symptoms of Autism Connected to Gene Mutation

by Dr. Enozia Vakil on April 26, 2014 at 9:08 PM
Font : A-A+

 Key Symptoms of Autism Connected to Gene Mutation

There is association between abnormal brain growth with autism spectrum disorder as studied by scientists.

Now, scientists from the Florida campus of The Scripps Research Institute (TSRI) have shown that mutations in a specific gene that is disrupted in some individuals with autism results in too much growth throughout the brain, and yet surprisingly specific problems in social interactions, at least in mouse models that mimic this risk factor in humans.

"What was striking is that these were basically normal animals in terms of behavior, but there were consistent deficits in tests of social interaction and recognition-which approximate a major symptom of autism," said Damon Page, a TSRI biologist who led the study. "This suggests that when most parts of the brain are overgrown, the brain somehow adapts to it with minimal effects on behavior in general. However, brain circuits relevant to social behavior are more vulnerable or less able to tolerate this overgrowth."

Advertisement

The study, which focuses on the gene phosphatase and tensin homolog (PTEN), was recently published online ahead of print by the journal Human Molecular Genetics.

Autism spectrum disorder is a neurodevelopmental disorder involving a range of symptoms and disabilities involving social deficits and communication difficulties, repetitive behaviors and interests, and sometimes cognitive delays. The disorder affects in approximately one percent of the population; some 80 percent of those diagnosed are male.
Advertisement

In a previous study, Page and colleagues found that mutations in Pten causes increased brain size and social deficits, with both symptoms being exacerbated by a second "hit" to a gene that regulates levels of the neurotransmitter serotonin in the brain. In the new study, the TSRI team set out to explore whether mutations in Pten result in widespread or localized overgrowth within the brain, and whether changes in brain growth are associated with broad or selective deficits in tests of autism-relevant behaviors in genetically altered mice. The team tested mice for autism spectrum disorder-related behaviors including mood, anxiety, intellectual, and circadian rhythm and/or sleep abnormalities.

The researchers found that Pten mutant mice showed altered social behavior, but few other changes-a more subtle change than would have been predicted given broad expression and critical cellular function of the gene.

Intriguingly, some of the more subtle impairments were sex-specific. In addition to social impairments, males with the mutated gene showed abnormalities related to repetitive behavior and mood/anxiety, while females exhibited additional circadian activity and emotional learning problems.

The results raise the question of how mutations in PTEN, a general regulator of growth, can have relatively selective effects on behavior and cognitive development. One idea is that PTEN mutations may desynchronize the normal pattern of growth in key cell types-the study points to dopamine neurons-that are relevant for social behavior.

"Timing is everything," Page said. "Connections have to form in the right place at the right time for circuits to develop normally. Circuitry involved in social behavior may turn out to be particularly vulnerable to the effects of poorly coordinated growth."



Source: Newswise
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
Diet and Oral Health: The Sugary Connection May Become Sour
World AIDS Day 2022 - Equalize!
Test Your Knowledge on Sugar Intake and Oral Health
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 Autism Rett Syndrome McArdle Disease Weaver Syndrome Acquired Epileptiform Aphasia Sensory Processing Disorder (SPD) 

Most Popular on Medindia

Post-Nasal Drip Nutam (400mg) (Piracetam) Color Blindness Calculator The Essence of Yoga Blood - Sugar Chart Sinopril (2mg) (Lacidipine) Pregnancy Confirmation Calculator Sanatogen Iron Intake Calculator Drug - Food Interactions
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
×

Key Symptoms of Autism Connected to Gene Mutation 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