Navigation Links
Study Uncovers Mutation Responsible for Noonan Syndrome

Scientists have discovered that mutations in a gene known as SOS1 account for many cases of Noonan syndrome (NS), a common childhood genetic //disorder which occurs in one in 1,000-2,500 live births. NS is characterized by short stature, facial abnormalities, and learning disabilities, as well as heart problems and predisposition to leukemia.

Led by researchers at Harvard Medical School-Partners Healthcare Center for Genetics and Genomics (HPCGG) and Beth Israel Deaconess Medical Center (BIDMC), the findings are reported in the December issue of Nature Genetics, which appears on-line today.

'Noonan syndrome is the most common single gene cause of congenital heart disease,' explains co-senior author Benjamin Neel, MD, PhD, Director of the Division of Cancer Biology at BIDMC and professor of medicine at Harvard Medical School (HMS).

'Although previous work had identified mutations in the PTPN11 gene as the cause of Noonan syndrome in nearly 50 percent of cases [and mutations in an oncogene known as KRAS in a small subset of severe cases] the identity of the gene or genes responsible for fully half the cases had not been elucidated,' Neel said.

To identify candidate genes, a group led by HMS instructor Amy Roberts, MD, and director of HPCGG Raju Kucherlapati, PhD, conducted genetic analysis of over 100 children with Noonan syndrome. This large cohort of NS patients had neither PTPN11 nor KRAS mutations.

'From this group, we identified SOS1 mutations in approximately 20 percent of the cases,' explains Kucherlapati, the Paul C. Cabot professor of genetics at HMS. After modeling the positions of the mutations on crystal structures of SOS1, the scientists made recombinant versions of the mutants and expressed them in mammalian cells, where it was discovered that they promoted excessive activation of RAS and its downstream target, MAP kinase, the same pathway activated by PTPN11 mutations.

'These results are the first example of activating mutations in an exchange factor in human disease,' notes Neel, explaining that for families at risk for Noonan syndrome, the findings will aid in prenatal diagnosis and genetic counseling for the disorder.

'Furthermore,' Neel adds, 'because the other two genes that cause Noonan syndrome are also mutated in several types of leukemia and solid tumors, our findings may also expand our knowledge of cancer pathways.'

Source-Newswise
'"/>




Related medicine news :

1. Tomato Sauce reduces Cancer Risk- Study
2. Study on obesity and heart failure
3. National Lung Study in the process
4. Study casts doubt on keyboard ills
5. Study reveals how stress can make you sick
6. Study reveals how stress can make you sick
7. Study supports vegetable diet
8. Study to look at early surgery to treat epilepsy
9. Its Never Too Late to Stop Smoking,Study Finds
10. New Technique to Study Infants Brain.
11. Groundbreaking Study Gives Hope For Patients With Kidney Cancer
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:2/6/2016)... ... February 06, 2016 , ... With the FCPX LUT: Summer ... grades to their footage. A LUT is a Lookup Table that contains a mathematical ... color indicated by the table. By manipulating each pixel, LUT's can change each color ...
(Date:2/5/2016)... ... 05, 2016 , ... VeloReality President and co-founder ... LYNX VR Indoor Trainer with multi-rider capability to an enthusiastic audience at the ... reduce the weight of the unit, they also enhance the rider's experience with ...
(Date:2/5/2016)... Santa Rosa, CA (PRWEB) , ... February 05, ... ... are pleased to announce the addition of micro-needling services in their Napa Valley ... appearance. The founders of Plastic Surgery Associates, Dr. Canales and Dr. Furnas, are ...
(Date:2/5/2016)... ... February 05, 2016 , ... US Sports Camps , official operators ... to direct high-performance kids yoga training. ChildLight Yoga Studio is centrally situated in the ... Boston. , ChildLight Yoga Studio founder Lisa Flynn expresses her excitement, “We are thrilled ...
(Date:2/5/2016)... ... February 05, 2016 , ... Boar’s Head Brand®, one of the nation’s ... weekend’s Big Game. Take the stress out of your party preparation – follow these ... at every stage of the game. , “The key to hosting a successful game-day ...
Breaking Medicine News(10 mins):
(Date:2/5/2016)... 2016  Aralez Pharmaceuticals Inc. ("Aralez") today announced the ... Tribute Pharmaceuticals Canada Inc. ("Tribute") following approval of the ... The combined company will operate under Aralez Pharmaceuticals Inc. ... Canada , Ireland ... Under the terms of the Agreement and Plan of ...
(Date:2/5/2016)... New York , February 5, 2016 ... new Transparency Market Research report states that the global ... in 2014 and is predicted to reach US$185.9 bn ... CAGR of 6.50% from 2014 to 2020. The title ... (Branded/Generic/Over-the-counter, Chemical/Biological, Captive/Contract Manufactured, by Geography, and by Therapeutic ...
(Date:2/5/2016)... -- Henry Schein, Inc. (NASDAQ: HSIC ), the world,s largest ... dental, animal health and medical practitioners, announced today that ... majority ownership interest in Dental Cremer S.A., a distributor ... . --> ... dental distribution business of Cremer S.A. With 2015 sales ...
Breaking Medicine Technology: