Navigation Links
Researchers identify first drug targets in childhood genetic tumor disorder
Date:5/24/2013

Two mutations central to the development of infantile myofibromatosis (IM)a disorder characterized by multiple tumors involving the skin, bone, and soft tissuemay provide new therapeutic targets, according to researchers from the Icahn School of Medicine at Mount Sinai. The findings, published in the American Journal of Human Genetics, may lead to new treatment options for this debilitating disease, for which the only current treatment option is repeated surgical removal of the tumors.

IM is an inheritied disorder that develops in infancy or even in utero and tumors continue to present throughout life. The tumors do not metastasize, but can grow large enough to invade the tissue surrounding them causing physical limitations, disfiguration, bone destruction, intestitinal obstruction, and even death. Currently, the standard of care is to excise the tumors when possible, which can be invasive, painful, and disfiguring, and most patients require multiple surgeries throughout their lives.

Led by John Martignetti, MD, PhD, Associate Professor of Genetics and Genomic Sciences, Oncological Sciences, and Pediatrics and other researchers at the Icahn School of Medicine at Mount Sinai and Hakon Hakonarson, MD, PhD at the Children's Hospital of Philadelphia, the global research team gathered blood samples from 32 people from nine different families affected by the disease and performed whole-exome sequencing, a type of genomic sequencing where all protein coding regions of the genome, called the exome, are analyzed. They identified mutations in two genes: PDGFRB and NOTCH3.

"We are very excited about the findings of this study, which started 10 years ago with the enrollment of the first family," said Dr. Martignetti. "The newest developments in sequencing technology have led to a new breakthrough in understanding this debilitating disease and we can therefore begin identifying drug-based treatments to save lives for some and avoiding the negative quality of life impact of extensive and repeated surgery in others."

PDGFRB and NOTCH3 are two genes that are targeted by existing drugs, including imatinib (GLEEVEC) and sunitinib (Sutent). Next, Dr. Martignetti and his team plans to test whether cells grown in the laboratory from myfibromatosis tumors are susceptible to these drugs. They also hope to learn why mutations in these two genes result in disease.

"If we can learn how these mutated genes get hijacked to cause cellular miscommunication, and also test existing and novel therapies to see if they shrink the tumors, we hope to improve the lives of the individuals battling this disease," said Dr. Martignetti.


'/>"/>

Contact: Mount Sinai Press Office
newsmedia@mssm.edu
212-241-9200
The Mount Sinai Hospital / Mount Sinai School of Medicine
Source:Eurekalert

Related medicine news :

1. Researchers find common childhood asthma unconnected to allergens or inflammation
2. Researchers identify networks of neurons in the brain that are disrupted in psychiatric disease
3. Fish Oil Pills Might Cut Diabetes Risk, Researchers Say
4. Researchers find genetic risk factor for pulmonary fibrosis
5. Researchers find genetic tie to improved survival time for pulmonary fibrosis
6. Leading researchers report on the elusive search for biomarkers in Huntingtons disease
7. Dissertation Clinic Prescribes Customized Remedy for Researchers
8. AGA honors distinguished clinicians, researchers and educators with prestigious recognition awards
9. Moffitt Cancer Center researchers analyze how Spanish smoking relapse booklets are distributed
10. Researchers say they are shocked by new statistics on head injuries among people who are homeless
11. A Premium Service for Researchers Launched in Switzerland
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:1/15/2017)... ... January 15, 2017 , ... Going above and beyond ... strives to better communities around the world by offering the Gensuite team and ... opportunity for team members to become involved in a cause that is bigger ...
(Date:1/15/2017)... ... 14, 2017 , ... Wondering where to go this Valentine's Day? Well, there ... for a romantic, lobster feast in the comfort of your own home. Lobster Gram ... dinners will be featured until February 15th, 2017. , Romantic Dinner one is ...
(Date:1/14/2017)... ... 2017 , ... AgileMinder develops innovative products and services that bring "Care, Joy ... on Apple as a fun, free emoji sticker pack for iMessage. Use the stickers ... color coded values on The Emoji Scale. , On Apple: "The Emoji Scale ...
(Date:1/13/2017)... , ... January 13, 2017 , ... KOAMTAC ®, ... will be showcasing the next generation companion scanner and data collector at the National ... KDC270 has been created as an answer to the market’s need for more compact ...
(Date:1/13/2017)... (PRWEB) , ... January 13, 2017 , ... "We wanted ... attractive to wear," said one of two inventors from Virginia Beach, Va. , They ... normally mundane braces. , The accessories allow braces to be customized to suit ...
Breaking Medicine News(10 mins):
(Date:1/13/2017)... 12, 2017   JDRF , the leading ... is pleased to announce that after more than ... Medicare & Medicaid Services (CMS) has recognized continuous ... for use in making diabetes treatment decisions as ... them eligible for coverage under Medicare. JDRF has ...
(Date:1/13/2017)... , Jan. 13, 2017 Over the last 10 years ... developing rapidly (6% – 10% yoy) and are expected to deliver remarkable ... the region, followed by Thailand , the ... , and Singapore .  A member of the G20 ... represents almost 40% of the SEA,s economic output and the largest pharma ...
(Date:1/12/2017)... Ind. , Jan. 12, 2017 Zimmer ... leader in musculoskeletal healthcare, announced today that it has ... and the U.S. Securities and Exchange Commission (SEC) to ... (FCPA) matters involving Biomet, Inc., as well as in ... to final judgment that Biomet entered into with DOJ ...
Breaking Medicine Technology: