Navigation Links
Study finds new gene mutations that lead to enlarged brain size, cancer, autism, epilepsy
Date:6/29/2012

SEATTLE June 28, 2012 A research team led by Seattle Children's Research Institute has discovered new gene mutations associated with markedly enlarged brain size, or megalencephaly. Mutations in three genes, AKT3, PIK3R2 and PIK3CA, were also found to be associated with a constellation of disorders including cancer, hydrocephalus, epilepsy, autism, vascular anomalies and skin growth disorders. The study, "De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes," was published online June 24 in Nature Genetics.

The discovery offers several important lessons and hope for the future in medicine. First, the research team discovered additional proof that the genetic make-up of a person is not completely determined at the moment of conception. Researchers previously recognized that genetic changes may occur after conception, but this was believed to be quite rare. Second, discovery of the genetic causes of these human diseases, including developmental disorders, may also lead directly to new possibilities for treatment.

AKT3, PIK3R2 and PIK3CA are present in all humans, but mutations in the genes are what lead to conditions including megalencephaly, cancer and other disorders. PIK3CA is a known cancer-related gene, and appears able to make cancer more aggressive. Scientists at Boston Children's Hospital recently published similar findings related to PIK3CA and a rare condition known as CLOVES syndrome in the American Journal of Human Genetics.

Physician researcher James Olson, MD, PhD, a pediatric cancer expert at Seattle Children's and Fred Hutchinson Cancer Research Center who was not affiliated with the study, acknowledged the two decades-worth of work that led to the findings. "This study represents ideal integration of clinical medicine and cutting-edge genomics," he said. "I hope and believe that the research will establish a foundation for succ
'/>"/>

Contact: Mary Guiden
mary.guiden@seattlechildrens.org
206-987-7334
Seattle Children's
Source:Eurekalert

Page: 1 2 3

Related medicine news :

1. Gay or Straight, Parents Too Tired for Sex, Study Suggests
2. Minorities Less Likely to Use Hospice Care: Study
3. Residents as Good as Fully Trained Docs if Properly Supervised: Study
4. Study calls for drug trial patients to receive more information about effects of placebos
5. Wake Forest Baptist study suggests Tasers dont cause cardiac complications
6. Study finds genes associated with hippocampal atrophy
7. Eating Vegetables May Protect Pancreas, Study Suggests
8. LA BioMed investigator Dr. Christina Wang spearheads study on new male contraceptive gel
9. UT Southwestern study shows treating diabetes early, intensively is best strategy
10. Unemployed Americans face greater risk of mortality: UBC study
11. Under Right Conditions, Fertility Treatment Can Equal Natural Conception Rates: Study
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/19/2015)... (PRWEB) April 19, 2015 Carinsurancehints.com has released ... who have to claim auto insurance benefits . ... pictures and gather all the necessary information for claiming auto ... a good insurance plan to cover most of the damages. ... insurance benefits for an accident. , Drivers can compare ...
(Date:4/19/2015)... New court documents issued by the ... Lipitor lawsuits ( http://www.lipitorlawsuitcenter.com/ ) continue to mount in ... of South Carolina. According to the April 15th filing, ... the proceeding on behalf of individuals who allegedly developed ... cholesterol-lowering statin. This represents an increase of 110 filings ...
(Date:4/19/2015)... Indiana Fiber Network, LLC (IFN), ... a major bandwidth upgrade infrastructure service to AdamsWells ... Craigville Telephone Company, Inc. (DBA AdamsWells), one of ... protected 10 Gigabit internet transport ring. , ... Sales and Marketing, AdamsWells expanded Internet bandwidth will ...
(Date:4/18/2015)... The Residential Senior Care Franchises ... years. The industry, which provides residential and personal-care services ... for themselves, has boomed on account of the aging ... seniors with memory impairment. As a result, IBISWorld expects ... 4.1% to $1.9 billion over the five years to ...
(Date:4/18/2015)... April 18, 2015 Carinsurancehints.com has released a ... plans that offer financial protection against fire damage. ... pay benefits in case their vehicle is set intentionally on ... caused by rioting or by other things. , It ... on a single website http://www.carinsurancehints.com/ , in just ...
Breaking Medicine News(10 mins):Health News:An Online Guide About Claiming Auto Insurance Benefits After an Accident 2Health News:Lipitor Lawsuits Mount, as New Court Report Shows More Than 100 Filings Added to Federal Litigation Since March 2Health News:Lipitor Lawsuits Mount, as New Court Report Shows More Than 100 Filings Added to Federal Litigation Since March 3Health News:AdamsWells Internet Telecom TV Expands Bandwidth via Indiana Fiber Network, LLC 2Health News:Residential Senior Care Franchises in the US Industry Market Research Report from IBISWorld Has Been Updated 2Health News:Residential Senior Care Franchises in the US Industry Market Research Report from IBISWorld Has Been Updated 3Health News:Online Auto Insurance Quotes For Plans That Cover Fire Damages! 2
... ARBOR, Mich.--- A new Bluetooth system designed primarily for blind ... world to tell pedestrians about points of interest along their ... orientation system was developed at the University of Michigan. Researchers ... , "Blind people can get from point A to point ...
... IBD have high risk of infection by hepatitis viruses ... disease, they need blood transfusions, and sometimes surgical and ... to alert health professionals about prevention and early diagnosis ... used in IBD treatment worsen the HBV liver disease. ...
... Bluegrass Bariatric Surgical,Associates announced today that the ... registry designed to evaluate the results of an,innovative ... ROSE (Revision Obesity Surgery, Endolumenal). The ROSE procedure ... pouch and stoma to,approximate the original post-gastric bypass ...
... a "Viable Alternative" to Standard Injections - 69% ... of Their Diabetes, AUSTIN, Texas, Sept. 17 ... small, disposable injection port about the size of ... 1 and type 2,diabetes, participants, differences in glycosylated ...
... Amazon.com Should Voters Ask Just How Important ... 17 In this presidential,election year, a vice-president ... ever been before. Yet, author and researcher Harry ... where a vice-president nomination seriously,impacted our country and ...
... AMN Healthcare, the largest,healthcare staffing company in ... International (OGPI), today announced AMN,s,endorsement of a Code ... the United States., A task force, including ... and licensure bodies developed the "Voluntary,Code of Ethical ...
Cached Medicine News:Health News:New Bluetooth system orients blind and sighted pedestrians 2Health News:New Bluetooth system orients blind and sighted pedestrians 3Health News:The prevalence of hepatitis B virus infection in inflammatory bowel disease patients 2Health News:Final Patient Enrolled In Large Data Registry of Incisionless Gastric Pouch and Stoma Reduction Procedure 2Health News:Final Patient Enrolled In Large Data Registry of Incisionless Gastric Pouch and Stoma Reduction Procedure 3Health News:Final Patient Enrolled In Large Data Registry of Incisionless Gastric Pouch and Stoma Reduction Procedure 4Health News:Diabetes Spectrum Reports a Study Assessing the i-port(R) Injection Port for Administration of Insulin 2Health News:Diabetes Spectrum Reports a Study Assessing the i-port(R) Injection Port for Administration of Insulin 3Health News:A Conspiracy of Silence: Impact on History The Health and Death of Franklin D. Roosevelt 2Health News:AMN Healthcare, OGPI Endorse AcademyHealth's Code of Conduct for Recruitment of Foreign-Educated Nurses 2Health News:AMN Healthcare, OGPI Endorse AcademyHealth's Code of Conduct for Recruitment of Foreign-Educated Nurses 3
(Date:4/17/2015)... NORTH CHICAGO, Ill. , April 17, 2015  AbbVie ... ABBV) today announced that it has extended the expiration of ... of common stock of Pharmacyclics, Inc. to 5 p.m., ... 2015. On April 17, 2015, AbbVie also ... Hart-Scott-Rodino Antitrust Improvements Act in order to provide the FTC ...
(Date:4/17/2015)... Nonin Medical, a global leader in noninvasive medical monitoring, ... Steve Bucholz will retire May 1. Company founder ... Chief Executive Officer. In addition, Mr. Isaacson will continue ... transition to David Noel , Chief Financial Officer. ... to Nonin Medical,s growth," Mr. Isaacson said. "Under Steve,s ...
(Date:4/17/2015)... 2015 Research and Markets ( ... "Medical Device Outsourcing - Global Strategic Business ... This report analyzes the worldwide markets for Medical ... Device Categories: Class I, Class II, and Class ... report Include - Radiology, Orthopedic, Neurology, Cardiology, and ...
Breaking Medicine Technology:AbbVie Extends Exchange Offer to Acquire Pharmacyclics, Inc. 2AbbVie Extends Exchange Offer to Acquire Pharmacyclics, Inc. 3AbbVie Extends Exchange Offer to Acquire Pharmacyclics, Inc. 4Nonin Medical's Philip Isaacson Expands CEO Role; President and COO Steve Bucholz to Retire May 1 2Medical Device Outsourcing (Radiology, Orthopedic, Neurology, Cardiology, and Others) Market 2015 - Global Strategic Business Report 2Medical Device Outsourcing (Radiology, Orthopedic, Neurology, Cardiology, and Others) Market 2015 - Global Strategic Business Report 3
... 2011  Saint-Gobain Performance Plastics has upgraded its capabilities ... art laser engraving system. The system allows Saint-Gobain ... of all hose assemblies, piping and components, providing ... Plastics can engrave crimp collars on hose assemblies ...
...  Breckenridge Pharmaceutical, Inc. announced that the U.S. Food ... New Drug Application (ANDA) for Methscopolamine Bromide Tablets. ... a prescription medicine that is used as adjunctive therapy ... by Kenwood Therapeutics. The current market is approximately $7M, ...
Cached Medicine Technology:Saint-Gobain Introduces Laser Engraving for Hose Assemblies 2
The first book to translate key medical data into clear guidelines capturing the highest treatment standards for heart disease....
... those involved with healthcare decisions to keep ... evidence in their field of interest - ... as the volume of evidence increases. Cochrane ... best single source available for continually updated ...
This orthopaedics refresher and study tool for the recertification exam is perfect for residents and practitioners....
Bones is a remarkable guide for the Medical Student, Nurse, Nurse Practitioner, Physician's Assistant or Physician to Bones....
Medicine Products: