Causes & Risk Factors Of Osteopetrosis

Autosomal Dominant Inheritance

This version of osteopetrosis occurs when one of the parents' dominant genes is mutated. This parent is considered a carrier of the mutation. In this scenario, a couple will have a fifty-fifty chance of having a child with osteopetrosis.

Autosomal dominant inheritance causes the mildest form of osteopetrosis that occurs in adults. In individuals with this form of the disease, they may not display any symptoms. If they do display symptoms, they include bone fractures, arthritis, scoliosis, or a bone infection called osteomyelitis.

As stated before, the CLCN7 gene causes the vast majority of autosomal dominant inheritance cases. There have been over fifty mutations of this gene that have been discovered to cause osteopetrosis. This gene indirectly regulates the chloride ion levels in osteoclasts. Chloride ion can be thought of like fuel for osteoclasts, and when delivery is impaired, it prevents osteoclasts from breaking down bone at the rate it should.

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