Abstract | Bone is formed by minerals, predominantly specialized proteins, calcium hydroxyapatite which make the bone matrix for proper function and bones strengthen. Bone is composed from osteoclasts, osteoblasts and collagen. Vessels are fundamental for basic bone multicellular units which organizes formation of osteoblasts and osteoclasts. Bone resorption is responded by osteoclasts (polynuclear cells). Osteoclasts function is vital in the maintenance, repair and bone remodeling.Imbalance in bone matrix leads towards disorders of bone such as osteogenesis imperfecta, paget’s disease of bone, osteoporosis, diastrophic dysplasia, cleidocranial dysplasia, kniest dysplasia, pycnodysostosis, caffey disease and achondroplasia which leads toward severe and sometime skeleton anomalies, back bone pain, bone fracture, extra toe, bent of tibia, head and neck anomalies, osteogenesis of skeleton muscles, stature, deteriorating joints, pelvic deformities, skull, craniofacial defects, shortening and extensiveness in bones, brachydactyly, osteoarthritis, clubbed foot, carpal and tarsal osteolysis and muscle weakness. Bone deformities occur at genetic level with different mode of inheritance pattern. Changes at genetic level can cure only by gene therapy by using in vivo or ex vitro gene therapy methods using either by viral or non-viral vectors, most common used is adeno-associated virus. Bone anomalies are one of the major problems in Pakistan and it is increasing rapidly day by day. Approximately 72% Pakistanis are suffering from bone anomalies, mostly women are affected. Paget’s disease of bone, osteogenesis imperfecta, spondyloepimetaphyseal dysplasia and many other disorders are reported in Pakistan. The high prevalence of genetic bone anomalies in Pakistan is due to lack of awareness and cousion marriage.

 

Keywords | Bone, Bone Disorders, Gene therapy, Bone anomalies in Pakistan, Treatment