Question

How Gene Mutation Mechanism affect the six different types of rare bone disease?

Answer 1

Bone disease is any disease or injury that affects the human bones. The different types of bone diseases are a)osteosarcoma b) osteogenesis imperfecta c) achondroplasia d) osteochondroma e) fibrous dysplasia and f)cleidocranial dysostosis. OSTEOSARCOMA: It is an inherited gene change or errors in DNA mutations that affects by increasing the risk of osteosarcoma. OSTEOGENESIS IMPERFECTA: is a rare hereditary disease of connective tissue characterized by brittle bones that results in fracture. It is a genetic defect that causes abnormal or reduced production of the protein collagen due to the mutation in the COL1A1, COL1A2, CRTAP and P3H1 genes. ACHONDROPLASIA: is affected by the altered gene in the protein called fibroblast growth factor receptor 3 in converting cartilage to bone. The gene mutation occurs in one parent's egg before conception. OSTEOCHONDROMA: the loss of exostosin-2 somatic cell is the genetic that affects the mechanism of osteochondroma. It is an autosomal-dominant disorder causes mutations during malignant progression with multiple osteochondromas. FIBROUS DYSPLASIA: fibrous dysplasia occurs after conception and is linked to a gene mutation that affects the early stages of development. The gene mechanism in fibrous dysplasia affect the cells that produce bone. CLEIDOCRANIAL DYSOSTOSIS: is a hereditary autosomal-dominant disorder that affects the gene mechanism by absence or reduction in size of collar bones.