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
'/>"/>

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

Page: 1 2

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:7/31/2015)... IL (PRWEB) , ... July 31, 2015 , ... The ... Boston, when Major League Baseball and the Boston Red Sox honor Ice Bucket co-founders ... the challenge. MLB is donating $100,000 to further collaborative efforts among the ALS organizations ...
(Date:7/31/2015)... ... July 31, 2015 , ... Successful Import/Export Programs:, ... http://www.fdanews.com/importexportprogram , Having FDA-regulated products held at ports costs time, money and ... containment — or even destruction — of products, an FDA insider shows manufacturers ...
(Date:7/31/2015)... ... July 31, 2015 , ... Burnaby ... post that encourages the understanding and treatment of ankle sprains. A common sports ... remedies. This can be dangerous if the condition augments and causes more disruption. ...
(Date:7/31/2015)... (PRWEB) , ... July 31, 2015 , ... ... proud to announce that their latest designer handbag line will be named for ... an Internet sensation as the first globally recognized model with Down syndrome, gracing ...
(Date:7/31/2015)... ... July 31, 2015 , ... Eldermark ... for LeadingAge’s Center for Aging Services Technologies (CAST) Medication Management Technologies whitepaper. The ... post-acute care providers understand the benefits of using medication management technologies . ...
Breaking Medicine News(10 mins):Health News:Major League Baseball Joins MDA and Fourteen Other ALS Organizations to Launch ALS Ice Bucket Challenge 2015 2Health News:Major League Baseball Joins MDA and Fourteen Other ALS Organizations to Launch ALS Ice Bucket Challenge 2015 3Health News:Major League Baseball Joins MDA and Fourteen Other ALS Organizations to Launch ALS Ice Bucket Challenge 2015 4Health News:FDAnews Announces — Successful Import/Export Programs: Former FDA Expert Shows the Way, Oct. 20-21, 2015 2Health News:FDAnews Announces — Successful Import/Export Programs: Former FDA Expert Shows the Way, Oct. 20-21, 2015 3Health News:FDAnews Announces — Successful Import/Export Programs: Former FDA Expert Shows the Way, Oct. 20-21, 2015 4Health News:Absolute PhysioCare & Sports Rehab Promotes Understanding & Treatment of Ankle Sprains 2Health News:everMaya to Launch Madeline Stuart Handbag Line 2Health News:everMaya to Launch Madeline Stuart Handbag Line 3Health News:LeadingAge Selects Eldermark Case Study to Highlight Medication Error Reduction Results 2Health News:LeadingAge Selects Eldermark Case Study to Highlight Medication Error Reduction Results 3
... The following is a,statement by Bonnie J. Campbell, ... jury unanimously concluded that former manufacturers,of lead pigment used ... the,harm claimed by this plaintiff. The jury unanimously found ... paint., "Under Wisconsin law, property owners are legally ...
... Rhythm Congress 2007 ... Live EP Cases in Birmingham, UK, CARLSBAD, ... company, announced today its successful first,public broadcast of a procedure ... by Dr. Lucas Boersma of the St. Antonius,Hospital in Nieuwegein, ...
... five treated babies doesn,t have excess stomach acid, study ... may be overprescribing anti-reflux medications to infants, new research ... in five babies given anti-reflux medications, which work by ... levels. That means four out of five infants included ...
... of choice to manage abnormal heart rhythms, a new ... School of Medicine suggests that women with ICDs fare ... retrospective analysis to be presented at the AHA Scientific ... p.m.), lead researcher Andrea Russo, M.D., Clinical Associate Professor ...
... Guatemala, Nov. 5 World-renowned heart,surgeon Dr. Rafael Espada ... President of Guatemala. President-elect Alvaro Colom, with Dr.,Espada as ... than 52.8 percent of the country,s votes. The two ... Guatemala, Dr. Espada has practiced for more than 30 ...
... Nov. 5 Lincoln Financial,Advisors, part of ... announced today that it has entered into ... to provide its members access to,services provided ... (Logo: http://www.newscom.com/cgi-bin/prnh/20050830/LFLOGO ) ...
Cached Medicine News:Health News:First in the World Live Case Using New Technology Demonstrates Shorter Procedure Time 2Health News:First in the World Live Case Using New Technology Demonstrates Shorter Procedure Time 3Health News:Anti-Reflux Drugs May Be Overprescribed in Infants 2Health News:Anti-Reflux Drugs May Be Overprescribed in Infants 3Health News:Do women fare worse with some heart devices? 2Health News:Houston Heart Surgeon Elected Vice President of Guatemala 2Health News:Lincoln Financial Advisors to Provide Exclusive Services to American Osteopathic Association Members 2Health News:Lincoln Financial Advisors to Provide Exclusive Services to American Osteopathic Association Members 3
(Date:7/30/2015)... July 30, 2015  Today we bring you a special edition of #MedicareMonday on ... you about some of our Medicare resources and continue highlighting the success of the ... Check out our latest infographics and videos here: http://onphr.ma/1INp9qQ ... ... ...
(Date:7/30/2015)... 2015 PTC Therapeutics, Inc. (NASDAQ: PTCT ... results for the second quarter ending June 30, 2015. ... across the organization.  We are excited to be near ... trial ever conducted with topline results expected in the ... Officer, PTC Therapeutics, Inc. "Translarna is now commercially available ...
(Date:7/30/2015)... 2015 Eisai Inc. announced today that regulatory ... States , European Union and Japan ... for eribulin, for the treatment of patients with inoperable ... for advanced or metastatic disease. These ... global Phase 3 clinical trial (Study 309), which met ...
Breaking Medicine Technology:Happy 50th Anniversary Medicare! 2Happy 50th Anniversary Medicare! 3PTC Therapeutics Reports Second Quarter 2015 Financial Results and Provides Corporate Update 2PTC Therapeutics Reports Second Quarter 2015 Financial Results and Provides Corporate Update 3PTC Therapeutics Reports Second Quarter 2015 Financial Results and Provides Corporate Update 4PTC Therapeutics Reports Second Quarter 2015 Financial Results and Provides Corporate Update 5PTC Therapeutics Reports Second Quarter 2015 Financial Results and Provides Corporate Update 6PTC Therapeutics Reports Second Quarter 2015 Financial Results and Provides Corporate Update 7PTC Therapeutics Reports Second Quarter 2015 Financial Results and Provides Corporate Update 8PTC Therapeutics Reports Second Quarter 2015 Financial Results and Provides Corporate Update 9PTC Therapeutics Reports Second Quarter 2015 Financial Results and Provides Corporate Update 10Eisai Submits Simultaneous Regulatory Applications for Eribulin in Soft Tissue Sarcoma in the United States, European Union and Japan 2Eisai Submits Simultaneous Regulatory Applications for Eribulin in Soft Tissue Sarcoma in the United States, European Union and Japan 3Eisai Submits Simultaneous Regulatory Applications for Eribulin in Soft Tissue Sarcoma in the United States, European Union and Japan 4Eisai Submits Simultaneous Regulatory Applications for Eribulin in Soft Tissue Sarcoma in the United States, European Union and Japan 5
... 20, 2011 Sevocity, a division of Conceptual MindWorks, ... selected by CITIA-SC as a preferred electronic health record ... Sevocity is the leading true Internet or cloud-based EHR. ... and customizable electronic health record system with low start-up ...
... 2011 Concentric Medical, Inc., the global leader in ... announced the launch of the expanded family of Merci ... 2.0 Soft and V 3.0 Soft, through recent Ichihen ... are now approved and reimbursed in Japan.  The Merci ...
Cached Medicine Technology:Sevocity® Named Preferred EHR Vendor by CITIA-SC, South Carolina's Health IT Regional Extension Center (REC) 2Concentric Medical Launches Full Family of Merci Retrievers® in Japan 2Concentric Medical Launches Full Family of Merci Retrievers® in Japan 3
... OraQuick is an FDA ... venipuncture whole blood test used ... of HIV-1 infection. This CLIA ... presence of antibodies to HIV-1, ...
... Mononucleosis test is designed to detect ... plasma or whole blood. The QuickVue+ ... of bovine erythrocytes which give a ... extracts prepared from sheep and horse ...
... available point-of-care diagnostic test that can reliably ... A and B. The test uses a ... that assists viral replication by promoting the ... The ZstatFlu substrate is labeled with a ...
The NOW Flu A test is the most frequently adopted rapid flu test on the market today. Testing could not be easier and the results are available in 15 minutes. Now you can focus on the results and tre...
Medicine Products: