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• Genetics of Osteoporosis-related Phenotypes in Baboons

• Anthropological and Primate Genetics Meeting

Summary

I investigate the effect of genes on variation in risk of aging-related skeletal diseases and changes in bone metabolism. These diseases, osteoporosis (“fragile bone disease”) and osteoarthritis are public health priorities of immediate concern due to the considerable individual suffering and public health costs associated with these diseases and the alarming rate at which their incidence is increasing as the population ages. Osteoporosis involves loss of bone from the skeleton and changes in the quality and arrangement of the remaining bone. The result is a skeleton that is vulnerable to fracture, especially of the hip, spine, and wrist. Women are especially vulnerable to this disease. Osteoarthritis involves deterioration of the joints of the skeleton, resulting in pain, stiffness, and limited mobility that make this disease the leading cause of disability in the U.S.
    I apply statistical genetic methods in studies of large extended pedigrees of baboons and humans to determine the degree to which genes and sex differences are responsible for variation in traits related to bone strength and osteoarthritis pathogenesis. I study not only traditional indicators of bone strength (such as bone density) but also, in conjunction with engineers at the Southwest Research Institute, more direct measures of bone’s resistance to fracture and of variation in joint biomechanics through mechanical testing of bone and joint specimens that are possible using the baboon, a non-human primate model for human bone and joint health. The baboon is a particularly valuable animal model system for osteoarthritis because non-human primates are the only animal model that faithfully replicates development of osteoarthritis as it occurs in humans. The ultimate goal of this research is to identify factors that contribute significantly to bone health to allow for earlier identification of those at higher risk and for more effective treatment and prevention strategies.

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