About My Health Careers Internship MedBlogs Contact us

Diverse Gene Mutation Linked to Differences in Symptoms of Autism Spectrum Disorder

by Dr. Trupti Shirole on December 24, 2014 at 5:19 PM
Font : A-A+

Diverse Gene Mutation Linked to Differences in Symptoms of Autism Spectrum Disorder

Autism researchers at Columbia University Medical Center have identified hundreds of genes that, when mutated, likely increase the risk of developing autism spectrum disorder (ASD). The variability among people with ASD is thought to stem from the diversity of underlying genetic changes, including the specific genes mutated and the severity of the mutation.

Senior author Dennis Vitkup, PhD said, "If we can understand how different mutations lead to different features of ASD, we may be able to use patients' genetic profiles to develop accurate diagnostic and prognostic tools and perhaps personalize treatment."


To investigate the links between genetic mutations and autism traits, researchers analyzed genetic and clinical data on hundreds of patients with ASD. They found that IQ and gender differences in autism are influenced by severity of mutations. People with more damaging genetic mutations usually lead to worse disease outcomes. Gender differences in autism cases could also be traced to the type of genes mutated in the individual.

Patients with low-verbal or nonverbal IQs usually had mutations in genes that are more active in the brain, and high-IQ individuals were less likely to have mutations that completely shut down genes, while mutations that only partially damage normal gene function in the brain appear to be predominantly associated with high-functioning autism cases. Researchers also found that the genes mutated in females generally had greater activity throughout the brain than those mutated in males.

The research team identified the type of affected brain cells by looking at the normal activity of autism-related genes in dozens of similar cell types in mouse brains. Their analysis showed that many different types of neurons throughout the brain are affected by mutations in autism genes.

Dr. Vitkup said, "The idea that eventually all autism mutations would converge onto a single type of neuron or single brain area isn't what we see in the data. Instead, an autism mutation usually affects multiple brain areas simultaneously."

The cortical and striatal neurons that form a circuit that controls repetitive motions and behaviors, such as rocking, an insistence on sameness, and restricted interests, which are common in people with ASD, seem to be affected more.

The study titled 'Genotype to phenotype relationships in autism spectrum disorders' is published in the journal 'Nature Neuroscience'.

Source: Medindia

News A-Z
News Category
What's New on Medindia
Emotional Healing
Psychosis Risk Related to Cat Parasite
Sedentary Behavior Precipitates Night-Time Hot Flashes
View all

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

More News on:
DNA Finger Printing Autism Cystic Fibrosis Rett Syndrome McArdle Disease Weaver Syndrome Acquired Epileptiform Aphasia Loss of Taste Inherited Breast Cancer Syndromes Von Hippel-Lindau Disease / Rare Genetic Disorder 

Recommended Reading
Autism is a neurodevelopmental disorder typically characterized by impaired social and ......
In Children With Autism, Early Brain Responses to Words Predict Developmental Outcomes
According to a new study, the pattern of brain responses to words in 2-year-old children with ......
Gene Networks Discovered in Autism may Present Treatment Targets
A new analysis of DNA from thousands of patients has uncovered many underlying gene networks with .....
Understanding Why Autism Potentially Occurs
An analysis of autism research covering genetics, brain imaging, and cognition has overhauled our .....
Acquired Epileptiform Aphasia
Acquired Epileptiform Aphasia or Landau –Kleffner Syndrome (LKS) is a rare childhood disorder in whi...
Cystic Fibrosis
Cystic fibrosis is a genetic disease involving the mucus and sweat glands and the medical world has ...
DNA Finger Printing
DNA fingerprinting is a technique which helps forensic scientists and legal experts solve crimes, id...
Inherited Breast Cancer Syndromes
Inherited breast cancers are caused due to mutations in genes that increase the risk of breast cance...
Loss of Taste
Symptom of loss of taste usually occurs in combination with loss of smell and can be complete loss o...
McArdle Disease
McArdle disease is a genetic disorder in which the body cannot breakdown glycogen in the muscles. It...
Rett Syndrome
Rett Syndrome is a neurological disorder that affects development. It mostly affects the girl ......
Von Hippel-Lindau Disease / Rare Genetic Disorder
Von Hippel-Lindau Disease (VHL) or Von Hippel-Lindau Syndrome is a rare genetic disorder caused by a...
Weaver Syndrome
Weaver syndrome is a genetic disorder in which children show accelerated bone growth, advanced bone ...

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 - 2021

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