Navigation Links
Further gene mutations linked to autism risk
Date:6/26/2009

Pieces in the complex autism inheritance puzzle are emerging in the latest study from a research team including geneticists from the University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia (CHOP). The study identified 27 different genetic regions where rare copy number variations missing or extra copies of DNA segments were found in the genes of children with autism spectrum disorders, but not in the healthy controls. The findings are published June 26 in the open-access journal PLoS Genetics.

Autism spectrum disorders (ASDs) are common neurodevelopmental syndromes with a strong genetic component. ASDs are characterized by disturbances in social behavior, impaired verbal and nonverbal communication, repetitive behaviors and/or a restricted range of interests. The genetics underlying ASDs is complex and remains poorly understood.

The researchers compared genetic samples of 3,832 individuals from 912 families with multiple autistic children against genetic samples of 1,070 disease-free children. Besides the identification of 27 regions harboring rare variants in children with ASDs, the study also uncovered two novel genes where variations were found, BZRAP1 and MDGA2 thought to be important in synaptic function and neurological development, respectively. Interestingly, key variants on these genes were passed down in some, but not all, of the affected individuals in families.

"We focused on changes in the exons of DNAprotein-coding areas in which deletions or duplications are more likely to directly disrupt biological functions," said study leader Hakon Hakonarson. "We identified additional autism susceptibility genes, many of which belong to the neuronal cell adhesion molecule family involved in the development of brain circuitry in early childhood." He added that the team discovered many "private" gene mutations, those found only in one or a few individuals or familiesan indication of genetic complexity, in which many different gene changes may contribute to an autism spectrum disorder.

Hakonarson and co-author Maja Bucan said the latest findings reinforce the view that multiple gene variants, both common and rare, may be interacting to cause the heterogeneous group of disorders included under autism spectrum disorders. "We are finding that both inherited and new, or de novo, genetic mutations are scattered throughout the genome, and it is becoming clear that different combinations of these variations contribute to autism susceptibility," said Bucan.

The Autism Genetic Resource Exchange (AGRE), a program of Autism Speaks, provided genetic biomaterials and clinical data from families that have more than one family member diagnosed with an Autism Spectrum Disorder. Blood samples donated by children and their families at CHOP were used as healthy controls. AGRE makes data publicly available to qualified researchers worldwide.


'/>"/>

Contact: Catriona Silvey
csilvey@plos.org
Public Library of Science
Source:Eurekalert

Related biology news :

1. UTSA wins San Antonio Area Foundation grant to further chlamydia research
2. Scientific evidence of health problems from past contamination of drinking water at Camp Lejeune is limited and unlikely to be resolved with further study
3. Researcher garners major award from NIH for further exploration into the mechanisms of obesity
4. New study provides further evidence that apple juice can delay onset of Alzheimers disease
5. Characterization of grapevine transposons furthers understanding of in vino variety
6. New book further supports controversial theory of Man the Hunted
7. UNC, Caltech research finds further evidence for genetic contribution to autism
8. New CITES quotas allow more caviar export, further jeopardize endangered sturgeon
9. New study casts further doubt on risk of death from higher salt intake
10. Immunosuppressant further linked to birth defects
11. Worlds largest investor coalition seeks further disclosure on climate change and shareholder value
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/18/2017)...  Socionext Inc., a global expert in SoC-based imaging and computing ... M820, which features the company,s hybrid codec technology. A demonstration utilizing ... Inc., will be showcased during the upcoming Medtec Japan at Tokyo ... Las Vegas Convention Center April 24-27. ... Click here for an image ...
(Date:4/13/2017)... -- According to a new market research report "Consumer IAM ... and Authorization), Service, Authentication Type, Deployment Mode, Vertical, and Region - Global ... grow from USD 14.30 Billion in 2017 to USD 31.75 Billion by ... ... MarketsandMarkets Logo ...
(Date:4/11/2017)... , April 11, 2017 No two ... researchers at the New York University Tandon School ... Engineering have found that partial similarities between prints ... used in mobile phones and other electronic devices ... The vulnerability lies in the fact that ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... (PRWEB) , ... October 11, 2017 , ... Disappearing forests ... the lives of over 5.5 million people each year. Especially those living in larger ... startup Treepex - based in one of the most pollution-affected countries globally - decided ...
(Date:10/11/2017)... Tampa Bay, Florida (PRWEB) , ... October 11, ... ... Food and Drug Administration (FDA) has granted orphan drug designation to SBT-100, its ... antibody (sdAb) for the treatment of osteosarcoma. SBT-100 is able to cross the ...
(Date:10/10/2017)... ... October 10, 2017 , ... ... targeted antibody-drug conjugate (ADC) therapeutics, today confirmed licensing rights that give it ... Nanoparticle), a technology developed in collaboration with Children’s Hospital Los Angeles (CHLA). ...
(Date:10/10/2017)... (PRWEB) , ... October 10, 2017 , ... Dr. Bob ... at his local San Diego Rotary Club. The event entitled “Stem ... CA and had 300+ attendees. Dr. Harman, DVM, MPVM was joined by two ...
Breaking Biology Technology: