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:4/29/2016)... ... April 29, 2016 , ... ... announces the addition Onnit brand Alpha BRAIN and New Mood Daily-Stress Formula for ... and mood optimization products to the store is just one more way Shamangelic ...
(Date:4/29/2016)... ... April 29, 2016 , ... The White House announced ... loans, more information about their loan terms and accounts, and more protections for ... including federal and private loans, has reached $1.3 trillion, with 43 million Americans ...
(Date:4/29/2016)... , ... April 29, 2016 , ... ... that student team BioCellection won the $30,000 Perlman Grand Prize of the 2016 ... Gloeckner Undergraduate Award, the Michelson People’s Choice Award, and the Committee Award for ...
(Date:4/29/2016)... ... , ... Dr. Robert Mondavi, one of the dentists in Torrance , ... fast-growing field as more patients are discovering the many different ways they can change ... currently available to them and which ones might work for their smiles. , ...
(Date:4/29/2016)... ... April 29, 2016 , ... Innovations with Ed Begley ... upcoming episode, airing third quarter 2016 via Discovery Channel. Dates and show times ... Dairy Products, located in Greenwood, Wisconsin applies product research and development and continuous ...
Breaking Medicine News(10 mins):
(Date:4/28/2016)... -- Treato , the single largest ... that it has been named a Cool Vendor by ... Sciences, 2016, Stephen Davies , Michael ... life-science- oriented analytics, algorithms and smart machine technology in ... medication ingestion, and analyze unstructured information.   ...
(Date:4/28/2016)... , April 28, 2016  ValGenesis, Inc., ... Management Solutions (VLMS) today announced that a ... for sufferers of chronic kidney failure has ... manage their corporate validation process. The global ... software solution to manage their validation processes ...
(Date:4/27/2016)... , le 27 Avril 2016 ... d,affaires a progressé de +5% sur le trimestre, ... récurrentes de consommables  Croissance de +16% ... Mauna Kea Technologies (Euronext : MKEA, ... d,endomicroscopie confocale laser, annonce aujourd,hui son chiffre d,affaires ...
Breaking Medicine Technology: