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:6/24/2016)... ... , ... Those who have experienced traumatic events may suffer from a complex ... as drug or alcohol abuse, as a coping mechanism. To avoid this pain and ... a traumatic event. , Trauma sufferers tend to feel a range of emotions, from ...
(Date:6/24/2016)... ... June 24, 2016 , ... ... for accelerated orthodontic treatment. Dr. Cheng has extensive experience with all areas of ... AcceleDent, and accelerated osteogenic orthodontics. , Micro-osteoperforation is a revolutionary adjunct to ...
(Date:6/24/2016)... ... June 24, 2016 , ... The Haute Beauty Network, ... M. Weintraub as a prominent plastic surgeon and the network’s newest partner. ... the most handsome men, look naturally attractive. Plastic surgery should be invisible.” He ...
(Date:6/24/2016)... Gaithersburg, MD (PRWEB) , ... June 24, 2016 ... ... and protocols for human induced pluripotent stem (iPS) cells and other difficult to ... PluriQ™ G9™ Cloning Medium. The PluriQ™ G9™ Gene Editing System is ...
(Date:6/24/2016)... (PRWEB) , ... June 24, 2016 , ... Today, ... optimize the ingestion of their medication by matching users with high quality water pipes ... compare pieces with no commitment. , Inhale was founded by two brothers, Nick and ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... 2016 Research and Markets has announced ... report to their offering. ... a favourable commercial environment for MedImmune to enter. The US ... will serve to drive considerable growth for effective anti-influenza medications. ... cap sales considerably, but development is still in its infancy. ...
(Date:6/23/2016)... June 23, 2016 , , ... July 7, 2016 , , , , LOCATION: , , ... , , , EXPERT PANELISTS:  , , , Frost & ... Analyst, Christi Bird; Senior Industry Analyst, Divyaa Ravishankar and Unmesh Lal, ... The global pharmaceutical industry is witnessing an exceptional era. Several new ...
(Date:6/23/2016)... BOGOTA, Colombia , June 23, 2016  Astellas today announced the establishment of Astellas Farma Colombia ... the company,s second affiliate in Latin America . ... ... Farma Colombia ... ...
Breaking Medicine Technology: