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 Turning carbon dioxide into liquid fuel
06.08.2020 | DOE/Argonne National Laboratory

nachricht Tellurium makes the difference
06.08.2020 | Friedrich-Schiller-Universität Jena

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: ScanCut project completed: laser cutting enables more intricate plug connector designs

Scientists at the Fraunhofer Institute for Laser Technology ILT have come up with a striking new addition to contact stamping technologies in the ERDF research project ScanCut. In collaboration with industry partners from North Rhine-Westphalia, the Aachen-based team of researchers developed a hybrid manufacturing process for the laser cutting of thin-walled metal strips. This new process makes it possible to fabricate even the tiniest details of contact parts in an eco-friendly, high-precision and efficient manner.

Plug connectors are tiny and, at first glance, unremarkable – yet modern vehicles would be unable to function without them. Several thousand plug connectors...

Im Focus: New Strategy Against Osteoporosis

An international research team has found a new approach that may be able to reduce bone loss in osteoporosis and maintain bone health.

Osteoporosis is the most common age-related bone disease which affects hundreds of millions of individuals worldwide. It is estimated that one in three women...

Im Focus: AI & single-cell genomics

New software predicts cell fate

Traditional single-cell sequencing methods help to reveal insights about cellular differences and functions - but they do this with static snapshots only...

Im Focus: TU Graz Researchers synthesize nanoparticles tailored for special applications

“Core-shell” clusters pave the way for new efficient nanomaterials that make catalysts, magnetic and laser sensors or measuring devices for detecting electromagnetic radiation more efficient.

Whether in innovative high-tech materials, more powerful computer chips, pharmaceuticals or in the field of renewable energies, nanoparticles – smallest...

Im Focus: Tailored light inspired by nature

An international research team with Prof. Cornelia Denz from the Institute of Applied Physics at the University of Münster develop for the first time light fields using caustics that do not change during propagation. With the new method, the physicists cleverly exploit light structures that can be seen in rainbows or when light is transmitted through drinking glasses.

Modern applications as high resolution microsopy or micro- or nanoscale material processing require customized laser beams that do not change during...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

“Conference on Laser Polishing – LaP 2020”: The final touches for surfaces

23.07.2020 | Event News

Conference radar for cybersecurity

21.07.2020 | Event News

Contact Tracing Apps against COVID-19: German National Academy Leopoldina hosts international virtual panel discussion

07.07.2020 | Event News

 
Latest News

Rare Earth Elements in Norwegian Fjords?

06.08.2020 | Earth Sciences

Anode material for safe batteries with a long cycle life

06.08.2020 | Power and Electrical Engineering

Turning carbon dioxide into liquid fuel

06.08.2020 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>