Navigation Links
Genetic alterations in shared biological pathways as major risk factor for ASD
Date:4/24/2014

A substantial proportion of risk for developing autism spectrum disorders (ASD), resides in genes that are part of specific, interconnected biological pathways, according to researchers from the Icahn School of Medicine at Mount Sinai, who conducted a broad study of almost 2,500 families in the United States and throughout the world. The study, titled "Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders," was first published online in the American Journal of Human Genetics on April 24.

ASD affects about one percent of the population in the United States and is characterized by impairments in social interaction and communication, as well as by repetitive and restricted behaviors. ASD ranges from mild to severe levels of impairment, with cognitive function among individuals from above average to intellectual disability.

Previously, ASD has been shown to be highly inheritable, and genomic studies have revealed that that there are various sources of risk for ASD, including large abnormalities in whole chromosomes, deletions or duplications in sections of DNA called copy number variants (CNVs), and even changes of single nucleotides (SNVs) within a gene; genes contain instructions to produce proteins that have various functions in the cell.

The researchers reported numerous CNVs affecting genes, and found that these genes are part of similar cellular pathways involved in brain development, synapse function and chromatin regulation. Individuals with ASD carried more of these CNVs than individuals in the control group, and some of them were inherited while others were only present in offspring with ASD.

An earlier study, results of which were first published in 2010, highlighted a subset of these findings within a cohort of approximately 1,000 families in the U.S. and Europe; this larger study has expanded that cohort to nearly 2,500 families, each comprising "trios" of two parents and one child. By further aggregating CNVs and SNVs (the latter identified in other studies), Mount Sinai researchers discovered many additional genes and pathways involved in ASD.

"We hope that these new findings will help group individuals with ASD based upon their genetic causes and lead to earlier diagnosis, and smarter, more focused therapies and interventions for autism spectrum disorders," said first author Dalila Pinto, PhD, Assistant Professor of Psychiatry, and Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai. Dr. Pinto is a Seaver Foundation Faculty Fellow, and a member of the Mindich Child Health & Development Institute, the Icahn Institute for Genomics and Multiscale Biology, and the Friedman Brain Institute at the Icahn School of Medicine at Mount Sinai; other Mount Sinai researchers on this study include Mafalda Barbosa, Graduate Student in Psychiatry; Xiao Xu, PhD, Postdoctoral Fellow in Psychiatry; Alexander Kolevzon, MD, Clinical Director of the Seaver Autism Center and Associate Professor of Psychiatry and Pediatrics; and Joseph D. Buxbaum, PhD, Director of the Seaver Autism Center, Vice Chair for Research in Psychiatry, and Professor of Psychiatry, Neuroscience, and Genetics and Genomic Sciences.


'/>"/>

Contact: Sid Dinsay
sid.dinsay@mountsinai.org
212-241-9200
The Mount Sinai Hospital / Mount Sinai School of Medicine
Source:Eurekalert

Related medicine news :

1. IntegraGen launches ARISk test, a genetic screening tool for autism in high-risk children
2. 2 genetic deletions in human genome linked to the development of aggressive prostate cancer
3. Head, Body Lice Are Genetically Very Similar
4. Certain Genetic Regions May Be Tied to Osteoporosis
5. Study of half siblings provides genetic clues to autism
6. Genetic variants, tobacco exposure and lung cancer risk
7. Research Gets Closer to Genetic Roots of Glaucoma
8. Moffitt researcher awarded GE grant to develop tool to detect breast cancer metastasis genetic risks
9. Genetically modified T cell therapy shown to be safe, lasting in decade-long study of HIV patients
10. Some women may be genetically predisposed to smoking-related hot flashes
11. Genetic abnormalities in benign or malignant tissues predict relapse of prostate cancer
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:9/22/2017)... ... , ... "Success Files," a short- and long-form documentary style ... disease estimated to affect the lives of more than 5 million Americans living ... leading voice in the fight for cure and research into the disease, its ...
(Date:9/22/2017)... ... 2017 , ... Egg freezing and embryo freezing are both ... slight statistical advantage for live births, frozen eggs offer many advantages, depending on ... medical treatment or who are concerned about the decline of their fertility as ...
(Date:9/21/2017)... ... 2017 , ... SABRE is raising awareness about personal safety with a Chicago ... November. , The Chicago, Illinois, based self-defense brand has been waiting for an opportunity ... of taking their personal safety into their own hands. , The ads focus on ...
(Date:9/21/2017)... (PRWEB) , ... September 21, 2017 , ... Bill Howe ... to its customers, and give back to the community. For over 37 years, they ... most successful companies serving plumbing in San Diego. They were chosen as ...
(Date:9/21/2017)... ... September 21, 2017 , ... Japanese Zen artist couple, ... Revolution” on 6th, 7th and 8th October at Miranda Kuo Gallery on Lower East ... pieces, such as Zen Kodo mat. Wanderlust , one of the largest US ...
Breaking Medicine News(10 mins):
(Date:9/6/2017)... -- Eli Lilly and Company (NYSE: LLY ... galcanezumab and lasmiditan, two investigational treatments for migraine, at ... taking place Sept. 7-10 in Vancouver ... data from an open-label study evaluating the safety and ... 240 mg) for the prevention of migraine. Galcanezumab is ...
(Date:9/5/2017)... JERUSALEM , Sept. 5, 2017 Oramed Pharmaceuticals ... www.oramed.com ), a clinical-stage pharmaceutical company focused on the ... it has successfully concluded its meeting with the U.S. ... novel oral insulin formulation. ... that the regulatory pathway for submission of ORMD-0801, would ...
(Date:8/29/2017)... 29, 2017 ivWatch, LLC, the leading provider of continuous ... it has been awarded an Innovative Technology contract from Vizient, Inc., ... ... aid in the early detection of peripheral IV infiltration and extravasation ... The Innovative Technology contract was awarded ...
Breaking Medicine Technology: