Endocrinology and Metabolism

Original Article

Calcium & bone metabolism
MicroRNA-181a-5p Curbs Osteogenic Differentiation and Bone Formation Partially Through Impairing Runx1-Dependent Inhibition of AIF-1 Transcription: Jingwei Liu, Xueying Chang, Daming Dong; Endocrinol Metab. 2023;38(1):156-173. Published online January 6, 2023; DOI: https://doi.org/10.3803/EnM.2022.1516

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Background
Evidence has revealed the involvement of microRNAs (miRNAs) in modulating osteogenic differentiation, implying the promise of miRNA-based therapies for treating osteoporosis. This study investigated whether miR-181a-5p influences osteogenic differentiation and bone formation and aimed to establish the mechanisms in depth.
Methods
Clinical serum samples were obtained from osteoporosis patients, and MC3T3-E1 cells were treated with osteogenic induction medium (OIM) to induce osteogenic differentiation. miR-181a-5p-, Runt-related transcription factor 1 (Runx1)-, and/or allograft inflammatory factor-1 (AIF-1)-associated oligonucleotides or vectors were transfected into MC3T3-E1 cells to explore their function in relation to the number of calcified nodules, alkaline phosphatase (ALP) staining and activity, expression levels of osteogenesis-related proteins, and apoptosis. Luciferase activity, RNA immunoprecipitation, and chromatin immunoprecipitation assays were employed to validate the binding relationship between miR-181a-5p and Runx1, and the transcriptional regulatory relationship between Runx1 and AIF-1. Ovariectomy (OVX)-induced mice were injected with a miR-181a-5p antagonist for in vivo verification.
Results
miR-181a-5p was highly expressed in the serum of osteoporosis patients. OIM treatment decreased miR-181a-5p and AIF-1 expression, but promoted Runx1 expression in MC3T-E1 cells. Meanwhile, upregulated miR-181a-5p suppressed OIM-induced increases in calcified nodules, ALP content, and osteogenesis-related protein expression. Mechanically, miR-181a-5p targeted Runx1, which acted as a transcription factor to negatively modulate AIF-1 expression. Downregulated Runx1 suppressed the miR-181a-5p inhibitor-mediated promotion of osteogenic differentiation, and downregulated AIF-1 reversed the miR-181a-5p mimic-induced inhibition of osteogenic differentiation. Tail vein injection of a miR-181a-5p antagonist induced bone formation in OVX-induced osteoporotic mice.
Conclusion
In conclusion, miR-181a-5p affects osteogenic differentiation and bone formation partially via the modulation of the Runx1/AIF-1 axis.

Citations

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Scopolamine regulates the osteogenic differentiation of human periodontal ligament stem cells through lactylation modification of RUNX2 protein
Ying Wu, Pan Gong
Pharmacology Research & Perspectives.2024;[Epub] CrossRef

Review Article

Bone Metabolism
Recent Topics in Fibrodysplasia Ossificans Progressiva: Takenobu Katagiri, Sho Tsukamoto, Yutaka Nakachi, Mai Kuratani; Endocrinol Metab. 2018;33(3):331-338. Published online September 18, 2018; DOI: https://doi.org/10.3803/EnM.2018.33.3.331

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Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease that is characterized by the formation of heterotopic bone tissues in soft tissues, such as skeletal muscle, ligament, and tendon. It is difficult to remove such heterotopic bones via internal medicine or invasive procedures. The identification of activin A receptor, type I (ACVR1)/ALK2 gene mutations associated with FOP has allowed the genetic diagnosis of FOP. The ACVR1/ALK2 gene encodes the ALK2 protein, which is a transmembrane kinase receptor in the transforming growth factor-β family. The relevant mutations activate intracellular signaling in vitro and induce heterotopic bone formation in vivo. Activin A is a potential ligand that activates mutant ALK2 but not wild-type ALK2. Various types of small chemical and biological inhibitors of ALK2 signaling have been developed to establish treatments for FOP. Some of these are in clinical trials in patients with FOP.

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Original Article

Bone Metabolism
Expression of Glucagon-Like Peptide 1 Receptor during Osteogenic Differentiation of Adipose-Derived Stem Cells: Yun Kyung Jeon, Min Jung Bae, Ju In Kim, Joo Hyoung Kim, Soo Jong Choi, Su Kyoung Kwon, Joon Hyop An, Sang Soo Kim, Bo Hyun Kim, Yong Ki Kim, In Joo Kim; Endocrinol Metab. 2014;29(4):567-573. Published online December 29, 2014; DOI: https://doi.org/10.3803/EnM.2014.29.4.567

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Background

Glucagon-like peptide 1 (GLP-1), an incretin hormone well known for its glucose-lowering effect, was recently reported to exert an anabolic effect on bone. Although the exact mechanism is not known, it likely involves the GLP-1 receptor (GLP-1R), which is expressed in some osteoblastic cell lines. Adipose-derived stem cells (ADSCs) have mesenchymal stem cell-specific characteristics, including osteoblastic differentiation potential. We evaluated the expression of GLP-1R during osteogenic differentiation of ADSCs.

Methods

ADSCs were isolated from subcutaneous adipose tissue obtained from three male donors during plastic surgery and were subjected to osteogenic induction. Mineralization was assessed by Alizarin Red staining on day 21. Expression of alkaline phosphatase (ALP), osteocalcin (OC), and GLP-1R was measured by real-time polymerase chain reaction in triplicate for each patient on days 0, 7, 14, and 21. Target mRNA expression levels were normalized to that of β-actin.

Results

ADSCs were fibroblast-like in morphology, adhered to plastic, and had multipotent differentiation potential, as assessed using specific antigen markers. The osteogenic markers ALP and OC were notably upregulated at 21 days. Osteogenic differentiation resulted in a time-dependent increase in the expression of GLP-1R (P=0.013).

Conclusion

We demonstrated upregulation of GLP-1R gene expression during osteogenic differentiation of ADSCs. This finding suggests that GLP-1 may induce osteogenic differentiation in bone tissue.

Citations

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Case Report

A Case of Type I Osteogenesis Imperfecta Differentially Diagnosed as a Cause of a Spinal Compression Fracture.: Sang Youl Rhee, Soo Young Moon, Suk Chon, In Kyung Jeong, Seungjoon Oh, Kyu Jeung Ahn, Ho Yeon Chung, Jeong Taek Woo, Sung Woon Kim, Young Seol Kim, Jin Woo Kim; J Korean Endocr Soc. 2007;22(6):446-452. Published online December 1, 2007; DOI: https://doi.org/10.3803/jkes.2007.22.6.446

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Abstract PDF: Osteogenesis imperfecta (OI) is a genetic disease that is caused by a synthetic anomaly of type I collagen. It is characterized by such features as low bone density, multiple fractures, bone deformities and chronic bone pain. According to the hereditary pattern and degree of phenotypical expression, it also has various extraskeletal manifestations such as blue sclera, hearing deformities and dentinogenesis imperfecta. Recently, an expanded seven subgroup classification of OI has been suggested by means of its clinical severity and mutational characteristics. However, most of the OI cases reported in Korea have been classified as type II or III that can be diagnosed easily and present with severe clinical manifestations. Only rare type I OI cases have been currently reported in Korea. Herein, we report a case of type I OI that was differentially diagnosed as a cause of a spinal compression fracture.

Original Article

Effects of Pamidronate Treatment on Osteogenesis Imperfecta.: Seung Won Lee, Hyon J Kim, Jae Hyun Cho, Hyoung Suk Lee, Youn Mu Jung, Dae Jung Kim, Kwan Woo Lee, Yoon Sok Chung; J Korean Endocr Soc. 2004;19(5):485-491. Published online October 1, 2004

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Abstract PDF: BACKGROUND
Osteogenesis imperfecta (OI) is a congenital disorder of type I collagen, with variable phenotypes, due to increased bone fragility and low bone mass. Previous pharmacological treatments for OI have been attempted with calcitonin and growth hormone but with little beneficial effects. Recently, Glorieux reported the beneficial effects of bisphosphonates in OI. METHODS: In this study, the effects of pamidronate treatment were evaluated in 9 patients with OI. All patients received intravenous pamidronate infusions, which was dose adjusted according to the patients' age. The outcome measures included the biochemical bone markers; serum alkaline phosphatase, urine deoxy-pyridinoline, urine Ca/Cr ratio, and bone mineral density (BMD). RESULTS: Serum alkaline phosphatase, urine deoxypyridinoline, and urine Ca/Cr ratio were slightly decreased after 1 year of therapy, although these changes were not statistically significant. The BMDs of the lumbar spine and proximal femur were significantly increased after 1-year of pamidronate treatment. No fractures were reported during the 1 year treatment periods. CONCLUSION: Pamidronate treatment had an effect on the BMD in osteogenesis imperfecta, probably due to decreasing bone resorption

Case Reports

Clinical Characteristics of 10 Cases of Korean Osteogenesis Imperfecta.: Hyoung Suk Lee, Hyon J Kim, Jae Hyun Cho, Seong Won Lee, Hyun A Kim, Joon Hyuck Choi, Young Jun Song, Dae Jung Kim, Kwan Woo Lee, Yoon Sok Chung; J Korean Endocr Soc. 2003;18(5):496-503. Published online October 1, 2003

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Abstract PDF: Osteogenesis Imperfecta (OI) is a relatively rare hereditary disease, which is characterized by multiple bone fractures and spine scoliosis, due to the fragility of bone, and is often associated with blue sclerae, deafness and dentinogenesis imperfecta. Four types of OI can be distinguished, according to the clinical findings. Although mutations affecting type I collagen are responsible for the disease in most patients, the mechanism by which the genetic defects cause abnormal bone development remains to be fully understood. Here, the clinical characteristics of 10 OI patient cases are reported, with a review of the literature. All the cases, including 4 type I, 4 type III and 2 type IV, inherited OI as an autosomal dominant trait. All the subjects had multiple old fractures and decreased bone densities. In this study, the biochemical marker of bone formation, serum alkaline phosphatase, was found to be increased only in the pediatric OI patients, while the biochemical marker of bone resorption, urinary deoxypyridinoline, was increased in all cases. The mobility score was found to correlate with the severity of the type on diagnosis.

Histomorphometry of Osteogenesis Imperfecta I.: Seong Bin Hong, Suk Myun Ko, Yong Koo Park, Young Joo Park, Yoon Juo Oh, Young Wan Kim, Sung Ki Kim, Moon Suk Nam, Yong Seong Kim; J Korean Endocr Soc. 2002;17(1):117-123. Published online February 1, 2002

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Abstract PDF: Osteoporosis imperfecta (OI) is a genetic disorder characterized by fragility of bone, deafness, blue sclerae; and laxity of joints. Four types of OI are distinguished by clinical findings. Although mutations affecting collagen I are responsible for the disease in the most patients, the mechanism by which the genetic defects cause abnormal bone development has not been well established. Therefore we evaluated static and dynamic bone histomorphometry of type I OI in the case study of a 15 year old boy with OI who had blue sclerae, a history of frequent fracture and a familial history of blue sclerae. Biopsy of the ilium showed loss of connection between the cortical bone and trabecular bones. The Harversian system in the cortical bone was poorly developed. In the trabecular bones, the lamellar pattern was poorly developed. Mineral apposition rate of the cortical bone was 1.0 m/day and of the trabecular bone was 0.79 m/day. Thus OI might be regard as a disease whereby abnormal collagen synthesis interferes with bone strength by multiple mechanisms.

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