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Characterization of the consequences of Trps1 deficiency in osteoblasts on bone formation

Keskinidis, Paulina (2023) Characterization of the consequences of Trps1 deficiency in osteoblasts on bone formation. Master's Thesis, University of Pittsburgh. (Unpublished)

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TRPS1 is a gene that encodes a zinc-finger transcription factor named TRPS1. Mutations in the TRPS1 gene cause a rare genetic disease called trichorhinophalangeal syndrome (TRPS), which is inherited in an autosomal dominant manner. Patients with TRPS have a characteristic pear-shaped nose, micrognathia, supernumerary teeth, cone-shaped growth plate in the fingers and toes, delayed bone growth, and osteopenia. To characterize the effect of Trps1 deficiency in osteoblasts on bone, we analyzed wild-type (WT) and Trps1Col1a1 conditional knockout (cKO) mice, in which Trps1 is deleted in osteoblasts upon tamoxifen injection. The WT and Trps1Col1a1 cKO mice were injected with tamoxifen at postnatal day 1 (P1), P2, P9, P16, and P23. Preliminary analysis of 4-week-old mouse femurs through micro-computed tomography (μCT) suggested that there was less trabecular bone and cortical bone in the Trps1Col1a1 cKO mice when compared to the WT mice. Hence, we hypothesize that Trps1 deficiency in osteoblasts impairs bone mass acquisition. I further analyzed the remaining number of samples needed for our analysis as determined by statistical power analysis to ensure the right sample size for statistical significance (N=5/Genotype/Sex) and found that Trps1Col1a1 cKO mice had smaller bones. We know that the Trps1Col1a1 cKO mice have decreased bone mass as indicated by the μCT data. Therefore, we hypothesize that decreased bone mass acquisition is the result of an imbalance in bone homeostasis. In addition to the μCT analysis, my part of the project was to preliminarily determine if there were differences in osteoclasts between the Trps1Col1a1 cKO and WT mice. To do this, histological analysis was utilized, where distal femur samples were stained with tartrate-resistant acid phosphatase (TRAP) to determine if there were differences in the number of osteoclasts in the Trps1Col1a1 cKO when compared to the WT mice. Distal femurs N=3 mice/genotype/sex were sectioned, stained with TRAP, and imaged at 40x magnification. The analysis of the TRAP-stained sections of distal femurs showed no statistical significance of osteoclasts in the trabecular bone and at the chondro-osseus junction in the Trps1Col1a1 cKO mice in comparison to the WT mice. Quantitative analysis of osteoclasts was conducted utilizing BioQuant software, enabling osteoclast number and surface to be normalized to bone surface.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Keskinidis, Paulinapak119@pitt.edupak1190000-0001-5199-8753
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Thesis AdvisorNapierala,
Committee MemberGuiseppe,
Committee MemberKostas,
Date: 23 May 2023
Date Type: Publication
Defense Date: 14 April 2023
Approval Date: 23 May 2023
Submission Date: 28 April 2023
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 48
Institution: University of Pittsburgh
Schools and Programs: School of Dental Medicine > Dental Science
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: Trps1 TRAP
Date Deposited: 23 May 2023 12:31
Last Modified: 23 May 2023 12:31


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