New Clues About Mutations Possibly Related to Osteogenesis Imperfecta

According to an article from Newswise, a team of researchers are studying tissue engineering for the repair of knee injuries such as a torn meniscus. The meniscus is the section of cartilage between the bones of the thigh and shin. Damage to this cartilage is not particularly uncommon and can be caused by any sort of intense physical activity when the knee joint is rotated or put under heavy strain.

However, in these injuries, a surgery is often necessary in order to restore function; the cartilage does not heal itself easily. Typically, the surgery requires the removal of the torn section, but this means that there is less cartilage behind to bear body weight. Tissue-engineering would allow for the cells of the meniscus to regenerate, grow and heal themselves for effectively. Surgery would no longer be necessary.

The dense intracellular matrix in the meniscus consists of sugars and proteins. Two specific proteins, TAZ and YAP, are known to have some importance in the healing process, but their precise role was not clear. Scientists decided to test their effect by engineering mice to have either both or one of the proteins deleted in their skeletal stem cells.

It was during this experiment that the researchers realized something remarkable. When both proteins were deleted, the bones of the mice were altered and showed similar characteristics to the rare bone condition osteogenesis imperfecta. In this condition, the bones lack structural strength due to abnormal collagen. Bones can break easily, and other symptoms include hearing loss, blue whites of the eyes, short stature, loose joints, and trouble with breathing and hearing. You can learn more about this disease by clicking here.

Although osteogenesis imperfecta is known to be caused be genetic mutation, this research shed light on aspects not previously understood.

It has been brought to our attention that a previous version of this article did not acknowledge that there are 15 genetic mutations associated with the condition, and a lot of work has been published over the past 40 years regarding mechanism. This new research may not be relevant to the majority of OI patients, who suffer from a collagen 1 mutation, for which the mechanism was determined years ago. While it is clear that these researchers have phenocopied OI, it is not clear what relationship this has to the mechanism of the disorder.

Researchers say that the TAZ and YAP proteins control expression of a gene, which can cause OI when it’s mutated. While there are ways to treat the symptoms of osteogenesis imperfecta, there is currently no cure, but understanding the disease more clearly means that new, more effective treatments could be possible in the future.


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