Title:
A Study of the Relationship Between Bone Morphogenetic Proteins and Craniosynostosis

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Whitton, Alaina
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Advisor(s)
Goodisman, Michael
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Abstract
INTRODUCTION: The high prevalence for craniosynostosis (1) indicates the need for genetic understanding and identification of molecular pathways involved in the premature fusion of the skull sutures. Due to the existing knowledge about bone morphogenetic proteins (BMPs) on ectopic bone formation (2), the role of the BMP family in multiple types of craniosynostosis has long been hypothesized as a key player in the early onset of suture fusion. Based on this hypothesis, the genetic expression of six bone morphogenetic proteins were examined in the four types of synostosis. METHODS: Bone collected from patients undergoing corrective craniotomies at Children’s Healthcare of Atlanta were received and cells were grown from the bone fragments. From those cells, Real-time PCR was performed to determine the mRNA levels of the predetermined genes. RESULTS: Patients expressed individual results based on several factors including suture placement, age at surgery, sex, and predisposition to syndromes known to occur in conjunction with craniosynostosis. The BMPs that were involved in extraneous bone formation and osteoblast hyperactivity were found in high levels in the fused suture bone, while the mRNA levels of the inhibitors of bone formation such as NOG were decreased in fused sutures and exhibited high levels in the patent sutures. CONCLUSION: The study further elucidates the role of BMPs in the onset of craniosynostosis and offers insight to the molecular pathways involved.
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Date Issued
2015-06-30
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Undergraduate Thesis
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