Title: Differential Gene Expression Profiling in Fibrogenesisimperfectaossium (FIO) and Effects of Human Growth Hormone Treatment

Presentation Number: SAT 352
Date of Presentation: April 1st, 2017

Sanjay Bhadada*
Postgraduate institute of medical education & research, Chandigarh, INDIA



Background: FIO is a rare metabolic bone disease clinically characterized by generalized bone pain andfragility fractures in both the axial and appendicular skeleton.Bone biopsy shows extensive mineralization defect (hyperosteoidosis)and loss of collagen birefringence under polarized microscopy.Etiology of the diseaseis unknown and noeffective therapycurrently exists.

Methods: We performed global gene expression profiling in mRNA isolated from bone biopsy specimen from a 48yold man with FIO, which suggested a possible molecular basis for thepathogenesis of FIO. Based on this information he was treated with human growth hormone for one year with frequent biochemical monitoring and a repeat bone biopsy.

Result: The global gene expression profile revealed 8,916 differentially expressed genes (out of total 35,307). The genetic and functional analyses suggestedthat FIO is associated with defects in osteoblast maturation, collagen fibril arrangement, matrix organization and bone mineralization with a possible defect in paracrine action of IGF1. Following therapy with human growth hormone there was a marked clinical, radiological and histological improvement.

Conclusion: Gene profile analysis of the bone biopsy specimen from a patient with FIO provided crucial information underlying the bone abnormality and a therapeutic basis for clinical management. We suggest that growth hormone may be a potential novel therapy for FIO. 


Nothing to Disclose: SB