Gene identification
In 1995, a research team led by Dr. Jacqueline Hecht of The University of Texas-Houston Health Science Center, identified the gene that causes pseudoachondroplasia. The abnormal gene is located on chromosome 19 and is called the cartilage oligomeric matrix protein (COMP) for its role in forming bone from cartilage. The COMP gene is normally present in all individuals.

Mouse model
Since this identification, Dr. Hecht’s team has been able to recreate the gene mutation in a mouse model. The limbs in the mice affected with pseudoachondroplasia look just like human limbs in this condition. Chondrocytes (the type of cell affected) are in the growing ends of all long bones and produce the necessary proteins for growth. When an individual has pseudoachondroplasia, COMP is retained in these chondrocytes, causing compromised cell function and cellular stress which eventually contributes to chondrocyte death. When these chondrocytes die, normal bone growth cannot happen.

Current testing
With the mouse model, Dr. Hecht’s team hypothesized that suppressing inflammation or oxidative stress may extend chondrocyte longevity. They tested the hypothesis by treating the affected mice with antioxidants or anti-inflammatory agents (aspirin, ibuprofen, resveratrol, grape seed extract (GSE), turmeric, CoQ10) and assessed intracellular retention, chondrocyte death, inflammation markers and femur lengths. They found that antioxidant and anti-inflammatory agents reduce intracellular retention of the mutant COMP and femur length was increased in those mice treated. Read the details of the study.

How your donations will help
This work is supported by federal and foundation grants and has allowed the development of the mouse model and to make important observations about the underlying cellular processes that occur when mutant COMP is present in the chondrocyte.  In order to move the research  forward more rapidly, we are asking for philanthropic support to expand the mouse colony and to move more rapidly into testing of different therapies.

Please donate now to ensure this research continues making strides!

Read a few of Dr. Hecht’s research articles for more information:

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