Navigation Links
H-ras gene mutation linked to Costello Syndrome

Professor Karen Gripp and his team from DuPont Hospital studied genetic mutations in H-ras gene which lead to Costello Syndrome, scientists found that the gene mutation occured in germline cells //though it was not observed in the genotype of the parents of the affected patients. The researchers have published the results of their study in Wiley Interscience. The researchers identified mutations in codon 12 or 13 in the H-ras gene in 85% patients. The authors feel that the identification of these mutations in combination with the knowledge from cancer research on HRAS and the MAPK pathway will allow for the use of medications directed at this pathway.

Costello Syndrome is very rare, with only 150 cases reported worldwide. It is associated with mental retardation, distinctive facial characteristics, cardiovascular abnormalities, and a predisposition for tumors. Patients often develop soft tissue tumors in childhood and bladder cancer as young adults. The researchers extracted DNA from blood, saliva or cell lines and performed DNA sequencing. When possible, they also sequenced the genes of the patients' parents. The nature of the missense mutations, along with the paternal age effect observed in Costello syndrome suggests a paternal origin of the mutations, the researchers report.

Source: Eurekalert


'"/>




Page: 1

Related medicine news :

1. Minor mutations in HIV virus
2. Genetic mutation to the fountain of youth discovered
3. Gene mutation identified for inherited pain syndrome
4. Success of HIV may depend in its mutations
5. BRAC2 mutations is also linked with cancers in men
6. Familial Breast cancer without gene mutation not found to cause ovarian cancer.
7. Skin Cancer caused by mutations in a single Gene
8. Autoimmune disorder caused due to mutation in cryopyrin protein
9. Uterine cancer may be associated with inherited mutations and a risk of many cancers
10. El Ni?o cycles linked to cholera outbreaks
11. Cancers of Colon & Rectum linked to Cigarette Smoking
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:10/13/2017)... ... October 13, 2017 , ... Talented host, actor Rob ... sciatica in a new episode of "Success Files," which is an award-winning educational ... and investigates each subject in-depth with passion and integrity. , Sciatica occurs when ...
(Date:10/13/2017)... (PRWEB) , ... October 13, 2017 , ... “The Journey: ... faced every danger possible to save lost souls in the Philippines. “The Journey: From ... Carole is a dedicated teacher of the Bible. She has taught all ages and ...
(Date:10/12/2017)... ... October 12, 2017 , ... First ... compliance program management, will showcase a range of technology and learning solutions at ... (NCAL) Convention and Expo to be held October 14–18, 2017 at the Mandalay ...
(Date:10/12/2017)... Orleans, LA (PRWEB) , ... October 12, 2017 , ... ... centers in the U.S., announced today its plans to open a flagship location in ... will occupy the former Rooms To Go store next to Office Depot in the ...
(Date:10/12/2017)... ... October 12, 2017 , ... IsoComforter, Inc. ( https://isocomforter.com ), ... of an innovative new design of the shoulder pad. The shoulder pad provides ... while controlling your pain while using cold therapy. By utilizing ice and water that ...
Breaking Medicine News(10 mins):
(Date:10/4/2017)... to the Centers for Disease Control and Prevention (CDC), influenza vaccination ... is helping communities across Massachusetts , Connecticut ... flu shots through the end of the month. *Some exclusions ... ... shot is by the end of October, according to the Centers for ...
(Date:10/2/2017)... 2, 2017  AllianceRx Walgreens Prime, the combined central ... and pharmacy benefit manager Prime Therapeutics LLC (Prime), today ... included the unveiling of new signage at its headquarters ... as at a few other company-owned facilities across the ... patients, some of whom will begin to see the ...
(Date:9/28/2017)... WASHINGTON , Sept. 28, 2017 Cohen ... to advance the use of wearable and home sensors ... brain disorders. Early Signal Foundation, a nonprofit organization focused ... populations, will provide an affordable analytical system to record ... ...
Breaking Medicine Technology: