Linkage Study in Hereditary Multiple Exostoses
Purpose of Study: “The goal of our Hereditary Multiple Exostoses (“HME”) research has been to understand how and why the exostoses develop. Chondrocytes are the cells which regulate the growth of the long bones. Mutations in either EXT1 or EXT2 genes are the cause of the HME, but how mutations affect chondrocyte development and function is unknown. Our studies focus on the exostoses chondrocytes that we isolate from the exostoses that are surgically removed from patients age 16 and under.”
Request for MHE Coalition Participation: As this research depends upon donation of surgical specimens, The MHE Coalition agreed to coordinate participants from our member base. Many of our young members and their families have been participating over the past four years and continue to do so.
Why we feel this study is important: It is important to understand how mutations in the EXT1 or EXT2 genes lead to abnormal bone growth. Dr. Hecht and her team have found differences in the chondrocytes from exostoses compared to chondrocytes from unaffected individuals and are characterizing these changes.
What you can do to help: If your child needs to have surgery, please contact Sarah Ziegler to discuss the possibility of having surgical specimens donated to research. If you decide to proceed you will be sent a box from Dr. Hecht containing the necessary consent forms, collection tubes and containers, and instructions. The box is refrigerated until surgery day and brought with you to the hospital. Blood and exostoses samples are taken during the surgery, so your child is not caused any additional pain, and samples are placed in the containers provided. The box, samples, and signed consent forms are then sent to Dr. Hecht’s laboratory by prepaid Federal Express.
Purpose of Study: “MHE results from mutations in EXT genes, which encode enzymes involved in heparan sulfate biosynthesis. We are studying heparan sulfate in chondrocytes derived from MHE patients and in mice containing mutations in EXT genes. Our approach is to grow chondrocytes isolated from the exostoses from patients and the growth plates of the bones from the mice under conditions that might resemble the way the cells grow naturally. If differences can be found between the cells obtained from the EXT-deficient and normal specimens, then a variety of biochemical tricks can be tried to make the EXT cells behave normally. This strategy could lead to the identification of important metabolic differences between the cells and ways to override the abnormality in the EXT cells.”
Request for MHE Coalition Participation: Initially, this study required exostoses samples from our members. However, development of the mouse model has reduced the need for donors. We continue to work with Dr. Esko, raising questions and sharing information on his ongoing MHE research.
Why we feel this study is important: Heparan sulfate is a major focus of MHE research, and may hold the key to possible future treatment options.
What you can do to help: Contact Sarah if your child is scheduled for surgery. Based on various criteria, a decision is made on which research project will receive the donated specimen.
Telephone: 718-747-1701, or cell phone: 917-841-2217.
