Navigation Links
Mount Sinai researchers solve mystery surrounding the death of two sisters nearly 50 years ago

Researchers at Mount Sinai School of Medicine have identified the genetic cause of a rare and fatal bone disease by studying frozen skin cells that were taken from a child with the condition almost fifty years ago. Their study, which details how the MT1-MMP gene leads to the disease known as Winchester syndrome, appears in the August 23, 2012 online edition of The American Journal of Human Genetics.

In 1969, Patricia Winchester, MD, a pediatric radiologist in New York City, was asked to diagnose two young sisters who were losing bone in their hands and feet, developing severe arthritis in their fingers and losing movement of their shoulders, elbows, hips and knees because of osteoporosis. The frozen skin cells that were recently studied by principal investigator, John Martignetti, MD, PhD, and his team of researchers in the Department of Genetics and Genomic Sciences at Mount Sinai, had been taken from one of the sisters. Ultimately, the disease rendered the girls incapable of moving without assistance, and proved fatal.

The cause of the disease has remained unknown until now, when the study's lead authors, post-doctoral students, Rebecca Mosig, PhD and Brad Evans, PhD, zeroed in on the MT1-MMP gene.

"This gene encodes an enzyme that needs to be specifically positioned on the membranes of cells to function correctly," explains Dr. Martignetti. "What we discovered is that these girls had a gene mutation which resulted in incorrect shuttling of the protein. Instead of being directed to the cell surface where it could interact with the outside environment, the mutant protein never reached its final, correct destination and remained trapped in the cell's cytoplasm. Mislocalized, it lost its ability to function and the children developed severe arthritis and bone The enzyme lost its ability to interact with another disease-casuing protein, MMP-2. Dr. Martignetti's team had previously identifed mutations in the MMP-2 gene as the cause of a similar group of bone disorders in children.

The researchers says this recent discovery should provide diagnostic clarity and insight into possible treatments for children with Winchester syndrome, and other bone disorders, and for people in the general population who have osteoporosis and arthritis.


Contact: Mount Sinai Press Office
The Mount Sinai Hospital / Mount Sinai School of Medicine

Related biology news :

1. NCEAS DataONE streamlines search and analysis of massive amounts of ecological data
2. Nitrogen pollution changing Rocky Mountain National Park vegetation, says CU-Boulder-led study
3. Medbox Developing a Patent Pending Wall-Mounted Biometric Kiosk for Storage of Sensitive Medicine Samples and Supplies for Doctors Offices.
4. European mountain plant population shows delayed response to climate change
5. Global warming has driven Europes mountain plants to migrate 2.7 meters upwards in 7 years
6. Accelerating climate change exerts strong pressure on Europes mountain flora
7. CU research shows warming climate threatens ecology at mountain research site west of Boulder
8. Expedition to undersea mountain yields new information about sub-seafloor structure
9. UNH research adds to mounting evidence against popular pavement sealcoat
10. Stanford researchers discover the anternet
11. By detecting smallest virus, researchers open possibilities for early disease detection
Post Your Comments:
(Date:11/10/2015)... 10, 2015  In this report, the ... of product, type, application, disease indication, and ... report are consumables, services, software. The type ... biomarkers, efficacy biomarkers, and validation biomarkers. The ... diagnostics development, drug discovery and development, personalized ...
(Date:11/9/2015)... 9, 2015  Synaptics Inc. (NASDAQ: SYNA ), ... broader entry into the automotive market with a comprehensive ... pace of consumer electronics human interface innovation. Synaptics, industry-leading ... for the automotive industry and will be implemented in ... Europe , Japan , and ...
(Date:10/29/2015)...   MedNet Solutions , an innovative SaaS-based eClinical ... research, is pleased to announce that it has been ... one of only three finalists for a 2015 ... Growing" category. The Tekne Awards honor Minnesota ... innovation and leadership. iMedNet™ eClinical ...
Breaking Biology News(10 mins):
(Date:11/25/2015)... 2015 2 nouvelles études permettent d ... les différences entre les souches bactériennes retrouvées dans la plaque ... êtres humains . Ces recherches  ouvrent une nouvelle ... en charge efficace de l,un des problèmes de ... .    --> 2 nouvelles études permettent ...
(Date:11/25/2015)...  Neurocrine Biosciences, Inc. (Nasdaq: NBIX ) announced ... of Neurocrine Biosciences, will be presenting at the 27th ... York . .   ... minutes prior to the presentation to download or install ... be available on the website approximately one hour after ...
(Date:11/25/2015)... SAN DIEGO , Nov. 25, 2015 ... that management will participate in a fireside chat discussion ... New York . The discussion is ... Time. .  A replay will ... Contact:  Media Contact:McDavid Stilwell  , Julie NormartVP, Corporate ...
(Date:11/24/2015)... LUMPUR, Malaysia , Nov. 24, 2015 /PRNewswire/ ... global contract research organisation (CRO) market. The trend ... result in lower margins but higher volume share ... increased capacity and scale, however, margins in the ... Research Organisation (CRO) Market ( ), ...
Breaking Biology Technology: