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:10/22/2014)... The United States is now mandating that all ... Africa land at one of five airports equipped ... In a statement released Tuesday, Homeland Security ... air passengers from Guinea, Liberia and Sierra Leone ... -- New York City,s Kennedy International Airport, Washington ...
(Date:10/22/2014)... 2014 During the Western United States’ ... runs dangerously low, Southern Oregon’s water is proving resistant ... the lowest mountain snow pack on record in 2014, ... early autumn.* That was the observation of journalist-hikers Art ... “Hiking Southern Oregon,” during an interview with water advocate ...
(Date:10/22/2014)... Lintelus, Inc., an event software provider, ... Sales, will be speaking on the subject of “Event ... October 28, at the Holiday Inn in New York ... well as a Tech Demo at 12:45pm, to educate ... more engaging event experience. , The Annual Meetings Technology ...
(Date:10/22/2014)... Two sisters in high school have developed ways to ... Krishen use electronic stethoscopes, which electronically amplify body sounds, ... or heartbeats. Ilina, a senior at Port Huron ... way to detect early lung damage in people exposed ... recorded one breath cycle each from 16 smokers, 25 ...
(Date:10/22/2014)... Dennis Thompson HealthDay Reporter ... was diagnosed with Ebola while working for NBC News ... leave the special isolation unit at Nebraska Medical Center in Omaha, ... hospital said Tuesday. A blood test confirmed by the U.S. ... can head home to Providence, R.I., NBC News reported ...
Breaking Medicine News(10 mins):Health News:Passengers From Ebola-Affected Countries Must Land at Designated U.S. Airports 2Health News:Passengers From Ebola-Affected Countries Must Land at Designated U.S. Airports 3Health News:Southern Oregon Is West’s Most Drought Proof Fresh Water Region Say Hiking Guide Authors 2Health News:Southern Oregon Is West’s Most Drought Proof Fresh Water Region Say Hiking Guide Authors 3Health News:Southern Oregon Is West’s Most Drought Proof Fresh Water Region Say Hiking Guide Authors 4Health News:Jay Cormier, Sr. Vice President of Sales for Lintelus, Speaks about Event Technology Integration at Meetings Technology Expo in NYC 2Health News:Teen Sisters Develop Ways to Measure Lung, Heart Damage 2Health News:U.S. Cameraman Treated for Ebola 'Free' of the Virus 2Health News:U.S. Cameraman Treated for Ebola 'Free' of the Virus 3
... (HealthDay News) -- A treatment currently being studied may ... build-up of plaque in artery walls that can lead ... conducting the study, published in the Sept. 12 issue ... with atherosclerosis who were randomly assigned to be treated ...
... Depression to Their Physicians , Many adults subscribe to ... to their primary care physician. In a survey of ... more reasons for not talking to a primary care ... reason being concern the physician would recommend antidepressants (23 ...
... HealthDay Reporter , MONDAY, Sept. 12 (HealthDay News) ... men become fathers, perhaps because they don,t need to compete ... bonding with their children. The findings don,t prove that ... the hormonal systems in men may detect that they,ve become ...
... new, minimally invasive way of treating irregular heartbeats by ... one such heart rhythm disorder, and it,s the most ... 70 percent of patients with the disorder who were ... of any heart rhythm irregularities one year out from ...
... By Dennis Thompson HealthDay Reporter , MONDAY, Sept. ... to check for colon cancer will become the standard screening ... slam-dunk. The method, known as virtual colonoscopy, combines X-ray ... length of the colon, the large intestine. It allows doctors ...
... Steven Reinberg HealthDay Reporter , MONDAY, Sept. 12 ... (NSAIDs) such as Advil, Motrin and Aleve may slightly increase ... Millions of people use these drugs regularly for pain and ... cancers, the researchers added. "NSAIDs have been associated ...
Cached Medicine News:Health News:New Drug Boosts 'Good' Cholesterol in Study Patients 2Health News:September/October 2011 Annals of Family Medicine Tip Sheet 2Health News:September/October 2011 Annals of Family Medicine Tip Sheet 3Health News:September/October 2011 Annals of Family Medicine Tip Sheet 4Health News:September/October 2011 Annals of Family Medicine Tip Sheet 5Health News:September/October 2011 Annals of Family Medicine Tip Sheet 6Health News:September/October 2011 Annals of Family Medicine Tip Sheet 7Health News:September/October 2011 Annals of Family Medicine Tip Sheet 8Health News:Testosterone Levels Seem to Fall With Fatherhood 2Health News:Testosterone Levels Seem to Fall With Fatherhood 3Health News:Freeze and desist: Disabling cardiac cells that can cause arrhythmia 2Health News:Virtual Colonoscopy Still Has Its Skeptics 2Health News:Virtual Colonoscopy Still Has Its Skeptics 3Health News:Virtual Colonoscopy Still Has Its Skeptics 4Health News:NSAID Painkillers Linked to Risk of Kidney Cancer 2Health News:NSAID Painkillers Linked to Risk of Kidney Cancer 3
(Date:10/22/2014)... , October 22, 2014 Investor-Edge ... Inc. (NASDAQ: FOLD ), Progenics Pharmaceuticals Inc. ... THLD ), Idera Pharmaceuticals Inc. (NASDAQ: ... Free research on these five companies can be accessed ... 21, 2014, the NASDAQ Composite ended at 4,419.48, up ...
(Date:10/22/2014)... Oct. 22, 2014   Reproductive Medicine Associates ... in the field of infertility, presents new clinical ... screening. The research abstract, released during the 70 ... (ASRM) meeting in Honolulu, Hawaii ... gene defect (SGD) pre-implantation genetic diagnosis (PGD). ...
(Date:10/22/2014)... -- AVACEN Medical announced today that its AVACEN 100 ... by the U.S. Food and Drug Administration. This clearance ... Internet for: the temporary relief of joint pain ... sprains . Logo - http://photos.prnewswire.com/prnh/20141021/153513 ... a sophisticated medical device incorporating over 3,000 firmware instructions ...
Breaking Medicine Technology:Market Momentum on Biotech Stocks - Amicus Therapeutics, Progenics Pharma, Threshold Pharma, Idera Pharma, and Merrimack Pharma 2Market Momentum on Biotech Stocks - Amicus Therapeutics, Progenics Pharma, Threshold Pharma, Idera Pharma, and Merrimack Pharma 3Market Momentum on Biotech Stocks - Amicus Therapeutics, Progenics Pharma, Threshold Pharma, Idera Pharma, and Merrimack Pharma 4Market Momentum on Biotech Stocks - Amicus Therapeutics, Progenics Pharma, Threshold Pharma, Idera Pharma, and Merrimack Pharma 5New IVF Research Highlights Improved Genetic Screening Approach To Help Parents Have Healthier Babies 2New IVF Research Highlights Improved Genetic Screening Approach To Help Parents Have Healthier Babies 3AVACEN Medical Announces FDA Clearance of First Medical Device with Internal Game Mode 2
... Technology Co., Ltd, one of the leading manufacturers of medical ... machine. Noble Laser,s IPL machine always enjoys a ... world choose this machine because of high configuration, stable quality ... free choosing. Please log in to www.noblelaser.com to ...
...  The Preserve Community Pharmacy Access NOW! (PCPAN) coalition today applauded ... the proposed merger between Express Scripts, Inc. (ESI) and ... In a letter to the Federal Trade Commission (FTC), ... 100,000 active and retired union mine workers. ...
Cached Medicine Technology:Beijing Noble Laser Technology Co., Ltd Offers a Great Deal on its IPL Machine 2Nationwide Coalition Applauds United Mine Workers For Voicing Concern Over Proposed ESI/Medco Merger 2
Angulated, blunt and pointed tips....
Pointed, 12 cm long....
All Bovie LLETZ Loop and Square electrodes feature tungsten wire for superior shape and integrity throughout the excision procedure. They use a standard 3/32" (2.3 mm) shaft....
Disposable 1 1/4" Tungsten Micro Needle, Ins., Straight...
Medicine Products: