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:2/12/2016)... ... February 12, 2016 , ... Nearly every ... promote eye health. These articles generally list between five and 15 foods that ... Kleyne endorses every one of these lists and believes that nutritious eye healthy ...
(Date:2/12/2016)... ... February 12, 2016 , ... US Sport Camps is pleased to announce the ... in Norwalk, serves as the host site and directing the camps is PGA Professional ... had successful camps in recent years around Des Moines and are fortunate to have ...
(Date:2/12/2016)... ... 12, 2016 , ... The Central Coast Autism Spectrum Center (CCASC) invites teens ages 11-18 to ... of fun for teens with and without special needs to gather in a safe and ... event. The dance will take place on Saturday, Feb. 13 from 7 to 9:30 p.m. ...
(Date:2/12/2016)... ... 12, 2016 , ... Basketball is a game for everyone, not just those ... series, sign language translation is featured in the top right of the screen. Every ... lessons has a sign language translator to teach kids the game and how to ...
(Date:2/12/2016)... ... February 12, 2016 , ... Dignity Health named Dr. ... Emergency Room –Mesa. The new facility is licensed under Dignity Health Arizona ... Bingham is an excellent leader and will ensure our new freestanding emergency room delivers ...
Breaking Medicine News(10 mins):
(Date:2/11/2016)... Calif., Feb. 11, 2016 PRO-DEX, INC. (NasdaqCM: PDEX) ... ended December 31, 2015. The Company also filed its Quarterly ... year 2016 with the Securities and Exchange Commission today. ... 31, 2015 --> --> ... increased $2.6 million, or 95%, to $5.4 million from $2.8 ...
(Date:2/11/2016)... DUNKIRK, N.Y. , Feb. 11, 2016  Governor ... Athenex that will create 1,400 jobs throughout ... by a partnership with the SUNY Polytechnic Institute, includes ... the Conventus Building in Buffalo , ... square foot manufacturing facility in Dunkirk ...
(Date:2/11/2016)... , Feb. 11, 2016  MiMedx Group, Inc. ... utilizing human amniotic membrane and other birth tissues, human ... to develop and market advanced products and therapies, announced ... Markets, 2016 Global Healthcare Conference in New ... and CEO, Michael J. Senken , Chief Financial ...
Breaking Medicine Technology: