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 Elusive compounds of greenhouse gas isolated by Warwick chemists
18.09.2019 | University of Warwick

nachricht Study gives clues to the origin of Huntington's disease, and a new way to find drugs
18.09.2019 | Rockefeller University

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Happy hour for time-resolved crystallography

Researchers from the Department of Atomically Resolved Dynamics of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg, the University of Hamburg and the European Molecular Biology Laboratory (EMBL) outstation in the city have developed a new method to watch biomolecules at work. This method dramatically simplifies starting enzymatic reactions by mixing a cocktail of small amounts of liquids with protein crystals. Determination of the protein structures at different times after mixing can be assembled into a time-lapse sequence that shows the molecular foundations of biology.

The functions of biomolecules are determined by their motions and structural changes. Yet it is a formidable challenge to understand these dynamic motions.

Im Focus: Modular OLED light strips

At the International Symposium on Automotive Lighting 2019 (ISAL) in Darmstadt from September 23 to 25, 2019, the Fraunhofer Institute for Organic Electronics, Electron Beam and Plasma Technology FEP, a provider of research and development services in the field of organic electronics, will present OLED light strips of any length with additional functionalities for the first time at booth no. 37.

Almost everyone is familiar with light strips for interior design. LED strips are available by the metre in DIY stores around the corner and are just as often...

Im Focus: Tomorrow´s coolants of choice

Scientists assess the potential of magnetic-cooling materials

Later during this century, around 2060, a paradigm shift in global energy consumption is expected: we will spend more energy for cooling than for heating....

Im Focus: The working of a molecular string phone

Researchers from the Department of Atomically Resolved Dynamics of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg, the University of Potsdam (both in Germany) and the University of Toronto (Canada) have pieced together a detailed time-lapse movie revealing all the major steps during the catalytic cycle of an enzyme. Surprisingly, the communication between the protein units is accomplished via a water-network akin to a string telephone. This communication is aligned with a ‘breathing’ motion, that is the expansion and contraction of the protein.

This time-lapse sequence of structures reveals dynamic motions as a fundamental element in the molecular foundations of biology.

Im Focus: Milestones on the Way to the Nuclear Clock

Two research teams have succeeded simultaneously in measuring the long-sought Thorium nuclear transition, which enables extremely precise nuclear clocks. TU Wien (Vienna) is part of both teams.

If you want to build the most accurate clock in the world, you need something that "ticks" very fast and extremely precise. In an atomic clock, electrons are...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Society 5.0: putting humans at the heart of digitalisation

10.09.2019 | Event News

Interspeech 2019 conference: Alexa and Siri in Graz

04.09.2019 | Event News

AI for Laser Technology Conference: optimizing the use of lasers with artificial intelligence

29.08.2019 | Event News

 
Latest News

Stroke patients relearning how to walk with peculiar shoe

18.09.2019 | Innovative Products

Statistical inference to mimic the operating manner of highly-experienced crystallographer

18.09.2019 | Physics and Astronomy

Scientists' design discovery doubles conductivity of indium oxide transparent coatings

18.09.2019 | Materials Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>