Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


New gene linked to autism risk, especially in boys

UCLA discovery may explain why disorder strikes boys four times more than girls

UCLA scientists have discovered a variant of a gene called CACNA1G that may increase a child's risk of developing autism, particularly in boys. The journal Molecular Psychiatry publishes the findings in its May 19 advance online edition.

Classic autism strikes boys four times more often than girls. When including the entire spectrum of autism disorders, such as the milder Asperger syndrome, boys are diagnosed 10 times more often than girls.

"This is a strong finding," said Dr. Stanley Nelson, professor of human genetics at the David Geffen School of Medicine at UCLA. "No one has scrutinized the role that CACNA1G plays in autism.

"We found that a common form of the gene occurs more frequently in the DNA of families that have two or more sons affected by autism, but no affected daughters," he explained. "Our study may explain why boys are more susceptible to the disorder than girls."

Nelson and his colleagues zeroed in on a region of Chromosome 17 that previous studies have tied to autism. The research team scoured the DNA of 1,046 members of families with at least two sons affected by autism for common gene variants.

A variant is a gene that has undergone subtle changes from the normal DNA yet is shared by a significant portion of the population.

The researchers used tools of the Human Genome Project to scan thousands of variants across all genes in the suspicious region of the chromosome and to pluck out the most common forms.

"We wanted to identify what was happening in this region of Chromosome 17 that boosts autism risk," said Nelson. "When the same genetic markers kept cropping up in a single region of the DNA, we knew we had uncovered a big clue."

The researchers traced the genetic markers to CACNA1G, which helps move calcium between the cells. They discovered that the gene has a common variant that appears in the DNA of nearly 40 percent of the population.

"This alternate form of CACNA1G consistently increased the correlation to autism spectrum disorder, suggesting that inheriting the gene may heighten a child's risk of developing autism," observed Nelson.

How the gene contributes to higher autism risk remains unclear, but Nelson emphasized that it cannot be considered a risk factor on its own.

"This variant is a single piece of the puzzle," he said. "We need a larger sample size to identify all of the genes involved in autism and to solve the whole puzzle of this disease."

The UCLA team's next step will be to sequence the gene in people who possess the altered variant in order to identify the exact change that increases autism risk. These subtle variations offer potential markers for the real mutation causing greater susceptibility to the disease.

Nelson's coauthors included Samuel Strom, Jennifer Stone, John ten Bosch, Barry Merriman, Rita Cantor and Daniel Geschwind, all of UCLA. The study was funded by the National Institute of Mental Health and Cure Autism Now, which has since merged with Autism Speaks.

The DNA samples and clinical data were provided by families who donated blood to the Los Angeles–based Autism Genetic Resource Exchange (AGRE), a program created and funded by Cure Autism Now.

"When parents like me first formed AGRE, this was our dream, that talented scientists would use our gene bank to collaborate and bring us closer to understanding autism," said Jon Shestack, co-founder of Cure Autism Now and a board member of Autism Speaks. "AGRE has played an important role in almost every major autism genetics paper in the past five years."

Autism is a complex brain disorder that strikes in early childhood. The condition disrupts a child's ability to communicate and develop social relationships and is often accompanied by acute behavioral challenges. The Centers for Disease Control and Prevention report that one in 150 American children is diagnosed with an autism spectrum disorder. The diagnosis of autism has expanded tenfold in the last decade.

Elaine Schmidt | EurekAlert!
Further information:

More articles from Life Sciences:

nachricht Gene therapy shows promise for treating Niemann-Pick disease type C1
27.10.2016 | NIH/National Human Genome Research Institute

nachricht 'Neighbor maps' reveal the genome's 3-D shape
27.10.2016 | International School of Advanced Studies (SISSA)

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Etching Microstructures with Lasers

Ultrafast lasers have introduced new possibilities in engraving ultrafine structures, and scientists are now also investigating how to use them to etch microstructures into thin glass. There are possible applications in analytics (lab on a chip) and especially in electronics and the consumer sector, where great interest has been shown.

This new method was born of a surprising phenomenon: irradiating glass in a particular way with an ultrafast laser has the effect of making the glass up to a...

Im Focus: Light-driven atomic rotations excite magnetic waves

Terahertz excitation of selected crystal vibrations leads to an effective magnetic field that drives coherent spin motion

Controlling functional properties by light is one of the grand goals in modern condensed matter physics and materials science. A new study now demonstrates how...

Im Focus: New 3-D wiring technique brings scalable quantum computers closer to reality

Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.

"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...

Im Focus: Scientists develop a semiconductor nanocomposite material that moves in response to light

In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.

A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...

Im Focus: Diamonds aren't forever: Sandia, Harvard team create first quantum computer bridge

By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.

"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...

All Focus news of the innovation-report >>>



Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

Agricultural Trade Developments and Potentials in Central Asia and the South Caucasus

14.10.2016 | Event News

World Health Summit – Day Three: A Call to Action

12.10.2016 | Event News

Latest News

How nanoscience will improve our health and lives in the coming years

27.10.2016 | Materials Sciences

OU-led team discovers rare, newborn tri-star system using ALMA

27.10.2016 | Physics and Astronomy

'Neighbor maps' reveal the genome's 3-D shape

27.10.2016 | Life Sciences

More VideoLinks >>>