2. Is Paget's Disease Hereditary?

In many cases, yes. Two genes called RANK and SQSTM1, along with areas of chromosomes five and six, are associated with the development of Paget's disease. However, people can also develop Paget's disease without a genetic link. About 40 percent of people who inherit Paget's disease have one mutation on the SQSTM1 gene. This gene encodes the p62 protein involved in bone cell function. Paget's disease is also associated with RANK mutations. RANK is an acronym for "Receptor Activator of Nuclear Factor KB. This membrane protein is expressed on surfaces of osteoclasts, or bone cells that decompose bone tissue.


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