PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Autism linked to increased genetic change in regions of genome instability

2013-04-03
(Press-News.org) Children with autism have increased levels of genetic change in regions of the genome prone to DNA rearrangements, so called "hotspots," according to a research discovery to be published in the print edition of the journal Human Molecular Genetics. The research indicates that these genetic changes come in the form of an excess of duplicated DNA segments in hotspot regions and may affect the chances that a child will develop autism -- a behavioral disorder that affects about 1 of every 88 children in the United States, according to the Centers for Disease Control.

Earlier work had identified, in children with autism, a greater frequency of rare DNA deletions or duplications, known as DNA copy number changes. These rare and harmful events are found in approximately 5 to 10 percent of cases, raising the question as to what other genetic changes might contribute to the disorders known as autism spectrum disorders.

The new research shows that children with autism have -- in addition to these rare events -- an excess of duplicated DNA including more common variants not exclusively found in children with autism, but are found at elevated levels compared to typically developing children. The research collaboration includes groups led at Penn State by Scott Selleck; at the University of California Davis/MIND Institute by Isaac Pessah, Irva Hertz-Picciotto, Flora Tassone, and Robin Hansen; and at the University of Washington by Evan Eichler.

The investigators also found that the balance of DNA duplications and deletions in children with autism was different from that found in more severe developmental disorders, such as intellectual disability or multiple congenital anomalies, where the levels of both deletions and duplications are increased compared to controls, and are even higher than in children with autism.

They also found that children who had more difficulty with daily living skills also had the greatest level of copy number change throughout their genome. "These measures of adaptive behavior provide an indication of the severity of the impairment in the children with autism. These behaviors were significantly correlated with the amount of DNA copy number change," Selleck said, emphasizing that the research revealed "clear and graded effects of the genetic change."

"These results beg the question as to the origin of this genetic change," Selleck said. "The increased levels of both rare and common variants suggests the possibility that these individuals are predisposed to genetic alteration."

A vigorous debate is ongoing in the research community about the degree of genetic versus environmental contributions to autism. Selleck said the finding of an overall increase in genetic change in children with autism heightens the need to search for the basis of this variation. "We know that environmental factors can affect the stability of the genome, but we don't know if the DNA copy number change we detect in these children is a result of environmental exposures, nutrition, medical factors, lifestyle, genetic susceptibility, or combinations of many elements together," Selleck said. "The elevated levels of common variants is telling us something. It suggests that pure selection of randomly generated variants may not be the whole story."

The Penn State team includes Department of Biochemistry and Molecular Biology Associate Professor Marylyn Ritchie and Assistant Professor Santhosh Girirajan. "The relationship between the level of copy number change and the degree of neurodevelopmental disability is something we have noted previously for large, rare variants" says Girirajan, "but this work extends those observations to common copy number variants, suggesting the level of copy number change in children with autism is larger than we had appreciated." Girirajan, the first author of the study, coordinated the effort between the Penn State and University of Washington researchers.

The research collaboration began with studies supported by the Minnesota Medical Foundation and the Martin Lenz Harrison Endowed Chair in Pediatrics when Selleck was Director of the Autism Initiative at the University of Minnesota. When Selleck arrived at Penn State in 2009, he began a new phase of the analysis with replication studies of early findings conducted with the help and expertise of Evan Eichler and colleagues at the University of Washington using the clinical data and DNA collected by Isaac Pessah, Irva Hertz-Picciotto, Flora Tassone, and Robin Hansen at the University of California Davis/MIND Institute group, which directs a large population-based case-control study of autism called CHARGE (Childhood Autism Risks from Genetics and Environment). In this multiyear study, clinical history, environmental, nutritional, family, and medical data are collected from the families of children with autism and other developmental disorders, as well as from randomly selected control children from the general population. The research took advantage of the CHARGE study, supported by the National Institute of Environmental Health Sciences and the Environmental Protection Agency.

"The CHARGE study is a true population-based case-control cohort for the study of autism, the only one of its kind that I am aware of" says Selleck, and allows for comparisons between the children with autism and controls matched for geographical location and time of birth. The research team plans to continue its collaboration to further characterize the more common genetic variants found to be associated with autism and to explore the relationship between genome variation and environmental exposures.



INFORMATION:

The research collaboration received financial support from Autism Speaks/Cure Autism Now, the National Institute of Environmental Health Sciences, the Environmental Protection Agency, the University of Minnesota Harrison Autism Initiative Fund, Penn State University, the Minnesota Medical Foundation, and the MIND Institute.

IMAGES

A high-resolution image associated with this research is online at http://science.psu.edu/news-and-events/2013-news/Selleck4-2013

CONTACTS at PENN STATE

Scott Selleck: sbs24@psu.edu, (+1) 814-867-4373

Santhosh Girirajan: sxg47@psu.edu, (+1) 814-865-0674

Barbara Kennedy (PIO): science@psu.edu, (+1) 814-863-4682

CONTACT at U. WASHINGTON

Leila Gray (PIO) to reach Evan Eichler: leilag@uw.edu, (+1) 206-685-0381

CONTACT at U.C. DAVIS

Phyllis Brown (PIO) to reach Isaac Pessah and Irva Hertz-Picciotto: phyllis.brown@ucdmc.ucdavis.edu, (+1) 916-734-9023

PREPRINT

The manuscript of the paper is in the Open Access section of the journal's website http://hmg.oxfordjournals.org/content/early/2013/03/26/hmg.ddt136.abstract.

GRANT NUMBERS

National Institute of Environmental Health Sciences (R01-ES015359 and P01ES011269)

Environmental Protection Agency (R833292 and R829388)



ELSE PRESS RELEASES FROM THIS DATE:

Breeding birds vulnerable to climate change in Arctic Alaska

2013-04-03
A new report from the Wildlife Conservation Society (WCS) looked at the vulnerability of 54 breeding bird species to climate change impacts occurring by the year 2050 in Arctic Alaska. The assessment found that two species, the gyrfalcon and common eider are likely to be "highly" vulnerable, while seven other species would be "moderately" vulnerable to anticipated impacts. Five species are likely to increase in number and benefit from a warming climate. Arctic Alaska harbors some of the most important breeding and staging grounds for millions of birds—many from around ...

High blood pressure in pregnancy may spell hot flashes later

2013-04-03
CLEVELAND, Ohio (April 3, 2013)—Women who have hypertensive diseases during pregnancy seem to be at higher risk of having troublesome hot flashes and night sweats at menopause, report researchers from the Netherlands in an article published online today in Menopause, the journal of The North American Menopause Society. This is the first study to look at this association. The investigators examined the relationship between hypertensive diseases in pregnancy, such as preeclampsia, and vasomotor symptoms (hot flashes and night sweats) among 853 women who visited a cardiology ...

Ophthalmologists urge early diagnosis and treatment of age-related macular degeneration

2013-04-03
SAN FRANCISCO – April 3, 2013 – Age-related macular degeneration (AMD) continues to be the leading cause of visual impairment in the United States for people over age 65, according to a study recently published online in Ophthalmology, the journal of the American Academy of Ophthalmology. AMD is a potentially blinding disease that affects more than 9.1 million Americans. This study, which tracked vision loss in relation to eye disease and treatment response in nearly 5,000 patients over a 20-year period, showed that despite the recent discovery of sight-saving drugs and ...

Chinese foreign fisheries catch 12 times more than reported: UBC research

2013-04-03
Chinese fishing boats catch about US$11.5 billion worth of fish from beyond their country's own waters each year – and most of it goes unreported, according to a new study led by fisheries scientists at the University of British Columbia. The paper, recently published in the journal Fish and Fisheries, estimates that China's foreign catch is 12 times larger than the catch it reports to the United Nation's Food and Agriculture Organization, an international agency that keeps track of global fisheries catches. Using a new method that analyzes the type of fishing vessels ...

Quantum cryptography: On wings of light

2013-04-03
Physicists from Ludwig-Maximilians-Universitaet (LMU) in Munich have, for the first time, successfully transmitted a secure quantum code through the atmosphere from an aircraft to a ground station. Can worldwide communication ever be fully secure? Quantum physicists believe they can provide secret keys using quantum cryptography via satellite. Unlike communication based on classical bits, quantum cryptography employs the quantum states of single light quanta (photons) for the exchange of data. Heisenberg's uncertainty principle limits the precision with which the position ...

Light tsunami in a superconductor

2013-04-03
In their latest experiment, Prof. Andrea Cavalleri from the Max Planck Institute for the Structure and Dynamics of Matter at the Hamburg-based Center for Free-Electron Laser Science (CFEL) and Dr. Michael Gensch from the Helmholtz-Zentrum Dresden-Rossendorf (HZDR) investigated together with other colleagues from the HZDR, the United Kingdom, and Japan if and how superconductivity can be systematically controlled. The objective of their research is to improve the usability of superconducting materials for such new technologies as, for example, the processing of information. ...

NYSCF scientists develop new protocol to ready induced pluripotent stem cell clinical application

2013-04-03
NEW YORK, NY (April 3, 2013) – A team of New York Stem Cell Foundation (NYSCF) Research Institute scientists led by David Kahler, PhD, NYSCF Director of Laboratory Automation, have developed a new way to generate induced pluripotent stem (iPS) cell lines from human fibroblasts, acquired from both healthy and diseased donors. Reported in PLOS ONE, this cell-sorting method consistently selects the highest quality, standardized iPS cells, representing a major step forward for drug discovery and the development of cell therapies. Employing a breakthrough method developed ...

Papyrus plant detox for slaughterhouses

2013-04-03
Humans have used the papyrus sedge for millennia. The Ancient Egyptians wrote on it, it can be made into highly buoyant boats, it is grown for ornamentation and parts can even be eaten. Now, writing in the International Journal of Environmental Technology and Management, researchers in Uganda have demonstrated that growing papyrus can be used to soak up toxins and other noxious residues from abattoir effluent. Robinson Odong, Frank Kansiime, John Omara and Joseph Kyambadde of Makerere University in Kampala, Uganda, investigated a range of macrophyte plants grown in so-called ...

Targeting mental defeat among pain patients could prevent anxiety and depression

2013-04-03
A new study of Hong Kong chronic pain patients suggests that targeting feelings of mental defeat could prevent severe depression, anxiety and interference with daily activities. The concept of mental defeat has previously been associated with post-traumatic stress disorder, but the new study applies it to the experience of chronic pain. Mental defeat occurs when pain patients view their pain as an 'enemy' which takes over their life and removes their autonomy and identity. The study, published in the Clinical Journal of Pain, analysed three groups of individuals living ...

Physicists decipher social cohesion issues

2013-04-03
Migrations happen for a reason, not randomly. A new study, based on computer simulation, attempts to explain the effect of so-called directional migration – migration for a reason – on cooperative behaviours and social cohesion. These results appear in a study about to be published in EPJ B by Hongyan Cheng from Beijing University of Posts and Telecommunications and colleagues. The authors devised a computer simulation of what they refer to as selfish individuals – those who are mainly concerned with their own interests, to the exclusion of the interests of others. In ...

LAST 30 PRESS RELEASES:

Older teens who start vaping post-high school risk rapid progress to frequent use

Corpse flowers are threatened by spotty recordkeeping

Riding the AI wave toward rapid, precise ocean simulations

Are lifetimes of big appliances really shrinking?

Pink skies

Monkeys are world’s best yodellers - new research

Key differences between visual- and memory-led Alzheimer’s discovered

% weight loss targets in obesity management – is this the wrong objective?

An app can change how you see yourself at work

NYC speed cameras take six months to change driver behavior, effects vary by neighborhood, new study reveals

New research shows that propaganda is on the rise in China

Even the richest Americans face shorter lifespans than their European counterparts, study finds

Novel genes linked to rare childhood diarrhea

New computer model reveals how Bronze Age Scandinavians could have crossed the sea

Novel point-of-care technology delivers accurate HIV results in minutes

Researchers reveal key brain differences to explain why Ritalin helps improve focus in some more than others

Study finds nearly five-fold increase in hospitalizations for common cause of stroke

Study reveals how alcohol abuse damages cognition

Medicinal cannabis is linked to long-term benefits in health-related quality of life

Microplastics detected in cat placentas and fetuses during early pregnancy

Ancient amphibians as big as alligators died in mass mortality event in Triassic Wyoming

Scientists uncover the first clear evidence of air sacs in the fossilized bones of alvarezsaurian dinosaurs: the "hollow bones" which help modern day birds to fly

Alcohol makes male flies sexy

TB patients globally often incur "catastrophic costs" of up to $11,329 USD, despite many countries offering free treatment, with predominant drivers of cost being hospitalization and loss of income

Study links teen girls’ screen time to sleep disruptions and depression

Scientists unveil starfish-inspired wearable tech for heart monitoring

Footprints reveal prehistoric Scottish lagoons were stomping grounds for giant Jurassic dinosaurs

AI effectively predicts dementia risk in American Indian/Alaska Native elders

First guideline on newborn screening for cystic fibrosis calls for changes in practice to improve outcomes

Existing international law can help secure peace and security in outer space, study shows

[Press-News.org] Autism linked to increased genetic change in regions of genome instability