The special form of the bone disease osteopetrosis that exists in Västerbotten is due to a gene mutation that can be traced back to the Middle Ages and leads to defective bone resorption, according to new research led at Uppsala University.
A healthy skeleton has a balance between the new formation and breakdown of bone tissue, which keeps the amount of bone mass constant. Bone is formed by a cell type called osteoblasts, while osteoclasts from bone marrow facilitate the resorption process.
With osteopetrosis, or marble bone disease as it used to be called, the ability to break down bones is absent. Because bone formation is normal, bone mass gradually increases, space for bone marrow contracts, and blood formation is disturbed. This leads to anemia and greater susceptibility to infection. Despite substantial bone mass, the skeleton becomes brittle and prone to fractures. The channels in the skull through which the hearing and optic nerves run are blocked by bone and patients often become blind and experience hearing loss.
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