Thomas, Jared RRoper, Randall J
Summary
Those with Down syndrome (DS) experience skeletal issues including generally shorter height, low bone density, and a predisposition to early onset osteoporosis. New studies reveal that age-related bone density loss occurs earlier in those with DS than the general population and these skeletal issues are affected by the expression of the trisomy 21 genes. This research will help guide clinical options for those with DS.
Abstract
Down syndrome (DS) is caused by trisomy 21 (Ts21) and results in skeletal deficits including shortened stature, low bone mineral density, and a predisposition to early onset osteoporosis. Ts21 causes significant alterations in skeletal development, morphology of the appendicular skeleton, bone homeostasis, age-related bone loss, and bone strength. However, the genetic or cellular origins of DS skeletal phenotypes remain unclear. New studies reveal a sexual dimorphism in characteristics and onset of skeletal deficits that differ between DS and typically developing individuals. Age-related bone loss occurs earlier in the DS as compared to general population. Perturbations of DS skeletal quality arise from alterations in cellular and molecular pathways affected by the overexpression of trisomic genes. Sex-specific alterations occur in critical developmental pathways that disrupt bone accrual, remodeling, and homeostasis and are compounded by aging, resulting in increased risks for osteopenia, osteoporosis, and fracture in individuals with DS.
Conditions
Bone Diseases, Osteopenia, Osteoporosis, Osteoporosis, Age-Related