Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

UMMS researchers identify epigenetic signatures of autism

08.11.2011
Analysis reveals overlap between genetic and epigenetic risk maps of autism

Scientists at the University of Massachusetts Medical School are the first to map epigenetic changes in neurons from the brains of individuals with autism, providing empirical evidence that epigenetic alterations—changes in gene expression caused by mechanisms other than changes in the underlying DNA sequence—may play an important role in the disease.

Analysis of these variations revealed hundreds of genetic sites that overlap with many of the genetic regions known to confer risk for Autism Spectrum Disorders. The study was published in Online First by the Archives of General Psychiatry.

Autism spectrum disorders are a group of complex biological illnesses with a variety of origins. People with a disorder on the autism spectrum often struggle with social interactions and communication. Many suffer from delayed language skills, as well as restricted interests and repetitive behavior. It's estimated that only 10 percent of cases are a result of genetic mutations. The cause of the remaining 90 percent of cases is unknown.

"We know that autism is a biological disorder," said Schahram Akbarian, MD, PhD, director of the Irving S. and Betty Brudnick Neuropsychiatric Research Institute and professor of psychiatry at the University of Massachusetts Medical School. "But very little is known about the genetic and molecular underpinnings associated with the disorder. It's been hypothesized that an epigenetic model of autism could potentially explain why genetic screening strategies for the disorder have been so difficult and frustrating. Our study is the first clear evidence gained exclusively from nerve cells pointing to a link between epigenetic changes and known genetic risk sites for autism."

In order to see if epigenetic changes were occurring in individuals with autism, Akbarian and colleagues developed a novel method for extracting chromatin – the packaging material that compresses DNA into a smaller volume so it can fit inside a cell's nucleus – from the nuclei of postmortem nerve cells. Using tissue samples obtained through the Autism Tissue Program from 16 individuals diagnosed with an autism spectrum disorder, Akbarian and colleagues used deep sequencing technology to compare these tissue samples with 16 control samples for changes in histone methylation, a small protein that attaches to DNA and controls gene expression and activity.

After analyzing the sequenced DNA data, Zhiping Weng, PhD, director of the Program in Bioinformatics and Integrative Biology and professor of biochemistry & molecular pharmacology at UMass Medical School, found hundreds of sites along the genome affected by an alteration in histone methylation in the brain tissue from the autistic individuals. However, less than 10 percent of the affected genes they observed were the result of a mutation to the DNA sequence.

"Neurons from subjects with autism show changes in chromatin structures at hundreds of loci genome-wide, revealing considerable overlap between genetic and epigenetic risk maps of developmental brain disorders," said Akbarian.

"Our understanding of psychiatric disorders, such as autism, is burdened by the fact that we often can't see the structural changes that lead to disease," said Akbarian. "It's only by studying these diseases on the molecular level that scientists can begin to get a handle on how they work and understand how to treat them."

About the University of Massachusetts Medical School

The University of Massachusetts Medical School, one of the fastest growing academic health centers in the country, has built a reputation as a world-class research institution, consistently producing noteworthy advances in clinical and basic research. The Medical School attracts more than $307 million in research funding annually, 80 percent of which comes from federal funding sources. The mission of the Medical School is to advance the health and well-being of the people of the commonwealth and the world through pioneering education, research, public service and health care delivery with its clinical partner, UMass Memorial Health Care.

Jim Fessenden | EurekAlert!
Further information:
http://www.umassmed.edu

More articles from Life Sciences:

nachricht Family of crop viruses revealed at high resolution for the first time
15.10.2019 | John Innes Centre

nachricht Receptor complexes on the assembly line
15.10.2019 | Albert-Ludwigs-Universität Freiburg im Breisgau

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: An ultrafast glimpse of the photochemistry of the atmosphere

Researchers at Ludwig-Maximilians-Universitaet (LMU) in Munich have explored the initial consequences of the interaction of light with molecules on the surface of nanoscopic aerosols.

The nanocosmos is constantly in motion. All natural processes are ultimately determined by the interplay between radiation and matter. Light strikes particles...

Im Focus: Shaping nanoparticles for improved quantum information technology

Particles that are mere nanometers in size are at the forefront of scientific research today. They come in many different shapes: rods, spheres, cubes, vesicles, S-shaped worms and even donut-like rings. What makes them worthy of scientific study is that, being so tiny, they exhibit quantum mechanical properties not possible with larger objects.

Researchers at the Center for Nanoscale Materials (CNM), a U.S. Department of Energy (DOE) Office of Science User Facility located at DOE's Argonne National...

Im Focus: Novel Material for Shipbuilding

A new research project at the TH Mittelhessen focusses on the development of a novel light weight design concept for leisure boats and yachts. Professor Stephan Marzi from the THM Institute of Mechanics and Materials collaborates with Krake Catamarane, which is a shipyard located in Apolda, Thuringia.

The project is set up in an international cooperation with Professor Anders Biel from Karlstad University in Sweden and the Swedish company Lamera from...

Im Focus: Controlling superconducting regions within an exotic metal

Superconductivity has fascinated scientists for many years since it offers the potential to revolutionize current technologies. Materials only become superconductors - meaning that electrons can travel in them with no resistance - at very low temperatures. These days, this unique zero resistance superconductivity is commonly found in a number of technologies, such as magnetic resonance imaging (MRI).

Future technologies, however, will harness the total synchrony of electronic behavior in superconductors - a property called the phase. There is currently a...

Im Focus: How Do the Strongest Magnets in the Universe Form?

How do some neutron stars become the strongest magnets in the Universe? A German-British team of astrophysicists has found a possible answer to the question of how these so-called magnetars form. Researchers from Heidelberg, Garching, and Oxford used large computer simulations to demonstrate how the merger of two stars creates strong magnetic fields. If such stars explode in supernovae, magnetars could result.

How Do the Strongest Magnets in the Universe Form?

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

International Symposium on Functional Materials for Electrolysis, Fuel Cells and Metal-Air Batteries

02.10.2019 | Event News

NEXUS 2020: Relationships Between Architecture and Mathematics

02.10.2019 | Event News

Optical Technologies: International Symposium „Future Optics“ in Hannover

19.09.2019 | Event News

 
Latest News

New material captures carbon dioxide

15.10.2019 | Materials Sciences

Drugs for better long-term treatment of poorly controlled asthma discovered

15.10.2019 | Interdisciplinary Research

Family of crop viruses revealed at high resolution for the first time

15.10.2019 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>