Exploring the Correlation between TNC Gene and Osteoporosis

Osteoporosis is one of the main causes of bone fractures in old age. The examination of osteoporosis in the elderly is very complicated due to the heterogeneity of the aging process. This study aimed to investigate the correlation of the TNC gene in the patients with an inherited and very rare osteoporosis syndrome. The importance of this study was the identification of a specific biomarker for the osteoporosis process in a monogenic disease.

In this case-control study, the patients with Osteogenesis Imperfecta were used as a simple and monogenic model to investigate the possibility of TNC gene role in osteoporosis. For this purpose, TNC protein network and its related biological pathways were firstly evaluated by bioinformatic analysis. Then, skin biopsies were taken from 3 patients with inherited osteoporosis syndrome called Osteogenesis Imperfecta and two healthy individuals. After culturing the biopsy, fibroblast cells were isolated from keratinocyte cells. Then, the total RNA of each sample was extracted from two different passages and cDNA was synthesized. Subsequently, the expression of TNC gene was measured by Real-time PCR in healthy and patient cells using various replicates.

TNC network proteins are significantly associated with the biological pathways involved in the ossification process. The expression of the TNC gene was assessed in wild type and patient cells. Finally, our results confirmed a significant increase in the expression of TNC in the patients’ compared to wild types’ cells by using technical and biological replicates (p:0.005, p:0.007) and Student t-test. In this study, Excel and GraphPad Prism 5.0 software (GraphPad Software, Inc., San Diego, CA) were used.

Increased expression of TNC gene in a monogenic osteoporosis syndrome can indicate the potential role of this gene in the process of bone loss and introduce this gen as a new biomarker for osteoporosis. The study on rare Osteogenesis Imperfecta syndrome is a simple and monogenic model to investigate the heterogeneous osteoporosis. Therefore, the expression of the candidate gene needs to be evaluated and confirmed in an appropriate statistical population composed of patients with osteoporosis.