Bone Reports最新文献

{"title":"The biological function of integrin-linked kinase on bone formation","authors":"Yu-ling Liu ,&nbsp;Yue-ming Mei ,&nbsp;Jing-qiong Xun ,&nbsp;Zhuo-yue Lv ,&nbsp;Qian He ,&nbsp;Zhou-bo-ran Liu ,&nbsp;Lin Li ,&nbsp;Fen Xie ,&nbsp;Ru-chun Dai","doi":"10.1016/j.bonr.2025.101834","DOIUrl":"10.1016/j.bonr.2025.101834","url":null,"abstract":"<div><div>Bone remodeling process is the basis for maintaining normal bone microstructure and promoting fracture repair. Recent studies have proven that integrins can promote bone formation and fracture repair. Integrin-linked kinase (ILK), as the proximal effector of the integrin receptor, is a key protein factor linking integrin and cytoskeleton. It is involved in crucial cellular processes including proliferation, survival, differentiation, migration, invasion, and angiogenesis reflects on systemic changes in the kidney, heart, muscle, skin, and vascular system. At present, the regulation effect of ILK in bone formation attracts the attention of researchers. This review emphasizes that ILK as a key molecule affects the functions of bone marrow stromal cells (BMSCs) and osteoblasts, and regulates bone formation. Additionally, ILK plays a key role in the process of“angiogenic–osteogenic coupling ”. The present role of ILK in the pathogenesis of osteoporosis is also described. Strategies that target ILK may as a new prospective treatment for osteoporosis (OP).</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"25 ","pages":"Article 101834"},"PeriodicalIF":2.1,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143609277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corrigendum to “SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta – A study of 18 patients from India” [Bone Rep. 2023 May 26;18:101690. doi: 10.1016/j.bonr.2023.101690]","authors":"Agnes Selina ,&nbsp;Madhavi Kandagaddala ,&nbsp;Vignesh Kumar ,&nbsp;Suneetha Susan Cleave Abraham ,&nbsp;Sumita Danda ,&nbsp;Vrisha Madhuri","doi":"10.1016/j.bonr.2025.101832","DOIUrl":"10.1016/j.bonr.2025.101832","url":null,"abstract":"","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"24 ","pages":"Article 101832"},"PeriodicalIF":2.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143620236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel SGMS2 mutation associated with high bone mass; description of an affected family with recurrent fragility fractures","authors":"Shinjan Patra ,&nbsp;Sweekruti Jena ,&nbsp;Ketki Kedar ,&nbsp;Minal Pande ,&nbsp;Kishore K Katam ,&nbsp;Ashka Prajapti ,&nbsp;Udhaya Kotecha ,&nbsp;Parin Vyas","doi":"10.1016/j.bonr.2025.101833","DOIUrl":"10.1016/j.bonr.2025.101833","url":null,"abstract":"<div><div><em>SGMS2</em> mutation can present with childhood-onset low bone mass and recurrent fragility fractures. We report a 25-year-old man with a three-generation family history of recurrent fragility fractures and diffuse high bone mass. He was found to have a heterozygous frameshift variant c.1052_1074dup in the SGMS2 gene.</div><div>Our case highlights a novel genetic mutation in the <em>SGMS2</em> gene and reports the first family of <em>SGMS2</em> mutation with high bone mass.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"24 ","pages":"Article 101833"},"PeriodicalIF":2.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143563233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biomechanical influence of numerical variants of lumbosacral transitional vertebra with Castellvi type I on adjacent discs and facet joints based on 3D finite element analysis","authors":"Tongxin Zhu,&nbsp;Zhangyan Xu,&nbsp;Dan Liu,&nbsp;Wei Zeng,&nbsp;Yongliang Pu,&nbsp;Haitao Yang","doi":"10.1016/j.bonr.2025.101831","DOIUrl":"10.1016/j.bonr.2025.101831","url":null,"abstract":"<div><h3>Objectives</h3><div>To investigate the effect of lumbosacral transitional vertebra (LSTV) on the biomechanical properties of adjacent discs and facet joints based on geometrically 3D personalized FEA.</div></div><div><h3>Methods</h3><div>A total of 45 individuals who underwent low dose whole body CT scans were retrospectively included and equally divided into 23, 24, and 25 presacral vertebrae (PSV) groups. Three-dimensional Finite Element computational models of normal and number-variant sub-types of LSTV were created. The biomechanical parameters, including the range of motion (ROM), the intervertebral disc pressure (IDP), and facet joint forces (FJF), were all evaluated to determine the biomechanical effects. IDP was equally divided into anterior (AIDP), middle (MIDP) and posterior (PIDP) parts along the short axis of the intervertebral disc.</div></div><div><h3>Results</h3><div>During extension, the 23 PSV group exhibited significantly higher von Meiss stress in the upper intervertebral disc compared to the 24 and 25 PSV groups (<em>P</em> = 0.003), indicating concentrated stress in the upper lumbar region and an increased the likelihood of localized disc degeneration over time. Furthermore, the 23 PSV group exhibited a larger ROM (3.28°) than the 25 PSV group (1.40°) (<em>P</em> = 0.011), implying greater segmental mobility and possible instability in the transitional segment. During flexion, the 25 PSV group showed higher stress in the lower intervertebral disc and a larger ROM than the 23 and 24 PSV groups; however, the differences were not significant (<em>P</em> &gt; 0.05).</div></div><div><h3>Conclusions</h3><div>The increased stress distribution and ROM in the upper disc of the transitional segment were only found in the 23 PSV sub-type of Castellvi type I LSTVs during extension, but not in the 25 PSV sub-type, which may help to further understand the impact of LSTV on the surrounding structures.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"24 ","pages":"Article 101831"},"PeriodicalIF":2.1,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143480616","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Total talectomy and reconstruction using unrestricted 3D printed prosthesis for pediatric talus hemangioendothelioma","authors":"Yunlong Zhang,&nbsp;Zhichang Zhang","doi":"10.1016/j.bonr.2025.101830","DOIUrl":"10.1016/j.bonr.2025.101830","url":null,"abstract":"<div><h3>Background</h3><div>Epithelioid hemangioendothelioma (EHE) is an ultra-rare vascular sarcoma with an extremely low incidence and prevalence, particularly in children. We report the case of a 9-year-old girl diagnosed with EHE. There are limited reconstruction methods available following total talus resection for vascular endothelioma of the talus, and the use of a 3D-printed talus prosthesis in pediatric cases has not been previously documented.</div></div><div><h3>Case presentation</h3><div>A 9-year-old girl presented to our unit with swelling, pain, and limited mobility of the ankle for one month without an obvious cause. X-ray and CT imaging revealed osteolytic lesions in the talus, which was identified as a low-grade malignant tumor that had nearly completely invaded the talus and was surrounded by immature bone. The American Foot and Ankle Surgery Association (AOFAS) score was 75/100. We performed a total resection of the talus followed by unrestricted talus replacement. Three months post-operation, the child was able to walk unaided. Ankle function was assessed at 6 and 13 months post-surgery, with the AOFAS score improving from 75 to 91, indicating that her functional needs for daily life were largely met.</div></div><div><h3>Conclusion</h3><div>Following complete excision of the lesion, the immature bone surrounding the talus was successfully preserved using an unrestricted 3D-printed prosthesis during ankle reconstruction. Our patient demonstrated satisfactory ankle function during the 6-month follow-up. This method is both safe and stable, yielding promising results, particularly for juvenile patients.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"24 ","pages":"Article 101830"},"PeriodicalIF":2.1,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143422503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Elevated sclerostin levels contribute to reduced bone mineral density in non-ambulatory stroke patients","authors":"Hye Kyoung Lee ,&nbsp;Geneva Rose Notario ,&nbsp;Sun Young Won ,&nbsp;Jung Hwan Kim ,&nbsp;Su Min Lee ,&nbsp;Ha Seong Kim ,&nbsp;Sung-Rae Cho","doi":"10.1016/j.bonr.2025.101829","DOIUrl":"10.1016/j.bonr.2025.101829","url":null,"abstract":"<div><div>Osteoporosis following stroke is a significant impediment to patient recovery. Decreased mechanical loading and locomotion following the onset of paralysis in stroke patients, especially those who are non-ambulatory, contributes greatly to bone loss. Sclerostin, a protein encoded by the SOST gene, accumulates as a result of reduced mechanical loading and inhibits bone formation. This study explores the relationship between mechanical unloading, sclerostin levels, and bone mineral density (BMD) in stroke patients, utilizing three cohorts. Analysis of Cohort 1, consisting of patients with available sclerostin level measurements, found significantly elevated sclerostin levels in non-ambulatory patients compared to ambulatory patients, indicating the influence of ambulatory status on sclerostin regulation. Cohort 2, consisting of patients with BMD measurements, demonstrated that prolonged mechanical unloading in non-ambulatory patients resulted in a greater decline in BMD over time. Analysis in Cohort 3 patients, who had bilateral BMD measurements available, revealed that hemiplegic sides subjected to reduced mechanical loading exhibited lower BMD compared to non-hemiplegic sides. These findings collectively confirm the hypothesis that reduced mechanical loading elevates sclerostin levels and accelerates bone loss. By integrating data across the three cohorts, this study underscores the critical impact of mechanical unloading on bone health, particularly in chronic stroke patients with limited mobility. Our study provides clinical insights for treatments integrating ambulatory status, sclerostin levels, and BMD in chronic stroke patients and highlights an increased need for therapeutics targeting mechanical loading pathways and sclerostin accumulation which can be administered to treat chronic osteoporosis following stroke.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"25 ","pages":"Article 101829"},"PeriodicalIF":2.1,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143685344","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Heterotopic ossification (HO) prophylaxis in total hip arthroplasty (THA): A systematic review of level I and level II evidence since 2000","authors":"Troy B. Puga ,&nbsp;McKenna W. Box ,&nbsp;Vincent M. Dieu ,&nbsp;Charles R. Marchese ,&nbsp;John T. Riehl","doi":"10.1016/j.bonr.2025.101828","DOIUrl":"10.1016/j.bonr.2025.101828","url":null,"abstract":"<div><h3>Introduction</h3><div>Heterotopic ossification (HO) is a somewhat common occurrence after total hip arthroplasty (THA), particularly with certain approaches. This complication can be detrimental to the success of the surgical outcome. Indomethacin and radiotherapy remain common treatment modalities; however, no true gold-standard treatment is universally agreed upon. This study aims to evaluate Level I and Level II evidence for treatment practices of HO prophylaxis since 2000.</div></div><div><h3>Methods</h3><div>To evaluate HO prophylaxis in total hip arthroplasty, a search was conducted across MEDLINE/Pubmed, Cochrane, and Embase databases using keywords and Medical Subject Heading (MeSH) terms. Titles and abstracts were screened for eligibility for inclusion criteria. Full texts were screened and included if they met eligibility criteria.</div></div><div><h3>Results</h3><div>HO chemical prophylaxis was more effective than no HO prophylaxis, except for aspirin. Multiple NSAIDs showed equivalence and better side effect profiles than indomethacin. No one superior NSAID was found, and numerous modalities showed efficacy. The most effective dosages of radiation therapy and combination therapy remain unclear. Additionally, both etidronate and salmon calcitonin showed benefit in preventing HO in one study each.</div></div><div><h3>Conclusion</h3><div>Radiation, NSAIDs, and combination therapy all showed efficacy as HO prophylaxis modalities. HO prophylaxis treatment and modalities should be guided upon patient and surgical factors such as surgical approach, side effects and tolerability of modalities, comorbidities, and available facility resources to optimize the prevention of HO.</div><div>Level of evidence: Level IV Therapeutic.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"24 ","pages":"Article 101828"},"PeriodicalIF":2.1,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143158952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term effects of infrapatellar fat pad SVF infiltration in knee osteoarthritis management: A prospective cohort study","authors":"Klaus Werner Labarre,&nbsp;Gerald Zimmermann","doi":"10.1016/j.bonr.2025.101827","DOIUrl":"10.1016/j.bonr.2025.101827","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Background&lt;/h3&gt;&lt;div&gt;Knee osteoarthritis (OA) is a prevalent and debilitating condition that significantly impacts patients' quality of life and poses a substantial socioeconomic burden. Current treatments, including nonsteroidal anti-inflammatory drugs (NSAIDs) and physical therapy, often provide only temporary relief and fail to halt disease progression, particularly in advanced stages where knee replacement surgery becomes the primary option. Regenerative cell therapies, particularly those utilizing mesenchymal stem cells (MSCs), have emerged as promising alternatives due to their anti-inflammatory and regenerative properties. This study investigates the efficacy of stromal vascular fraction (SVF) derived from autologous adipose tissue when injected into the infrapatellar (Hoffa's) fat pad, an approach that leverages the rich vascular and stem cell environment of the fat pad to potentially modulate inflammation and promote tissue repair.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Methods&lt;/h3&gt;&lt;div&gt;Patients receiving therapy with SVF were invited to participate in the study. Inclusion criteria encompassed male and female patients aged 18 years or older with a Kellgren-Lawrence score up to 4, while exclusion criteria included malignant tumors, sepsis, or skin lesions at the site of collection or injection. A total of 25 patients were included in the study cohort, with two patients receiving bilateral treatment, resulting in 27 knees analyzed.&lt;/div&gt;&lt;div&gt;For the correlation analysis, an additional four patients who had only completed the six-month follow-up were included, one of whom underwent bilateral treatment. This extended the correlation analysis cohort to 29 patients and 32 knees. However, these four patients were excluded from the final study analysis as they had not completed the two-year follow-up. Consequently, the final analysis focused exclusively on the 25 patients (27 knees) who completed the full two-year follow-up.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;Significant improvements were observed in VAS pain scores and KOOS subscales for pain, activities of daily living (ADL), and quality of life (QOL) at 6 and 24 months (&lt;em&gt;p&lt;/em&gt; &lt; 0.05). The correlation between the number of injected cells and functional improvements was significant for ADL at 6 months (Spearman's rho = 0.31, &lt;em&gt;p&lt;/em&gt; = 0.044). This time point was prioritized to evaluate early therapeutic responses, as it represents a critical window when cellular activity and therapeutic effects are believed to peak. Focusing on the six-month follow-up allowed for a detailed assessment of these early impacts while minimizing potential confounding factors observed in later stages. No major complications were reported.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Conclusion&lt;/h3&gt;&lt;div&gt;SVF infiltration into the infrapatellar fat pad shows promising long-term benefits in pain relief and functional improvement for knee OA patients. Despite the lack of blinding and a control group, these findings suggest that SVF therapy coul","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"24 ","pages":"Article 101827"},"PeriodicalIF":2.1,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143158119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A simple and user-friendly machine learning model to detect osteoporosis in health examination populations in Southern Taiwan","authors":"Wei-Chin Huang ,&nbsp;I-Shu Chen ,&nbsp;Hsien-Chung Yu ,&nbsp;Chi-Shen Chen ,&nbsp;Fu-Zong Wu ,&nbsp;Chiao-Lin Hsu ,&nbsp;Pin-Chieh Wu","doi":"10.1016/j.bonr.2025.101826","DOIUrl":"10.1016/j.bonr.2025.101826","url":null,"abstract":"<div><h3>Background</h3><div>Osteoporosis is a growing public health concern in aging populations such as Taiwan, where limited utilization of dual-energy X-ray absorptiometry (DXA) often leads to underdiagnosis and even delayed treatment. Therefore, we leveraged machine learning (ML) and aimed to develop a simple and easily accessible model that effectively identifies individuals at high risk of osteoporosis.</div></div><div><h3>Methods</h3><div>This retrospective analysis enrolled 5510 men aged ≥50 years and 4720 postmenopausal women who underwent DXA at the Kaohsiung Veterans General Hospital, with another cohort of 610 men and 523 women for validation. We developed separate models for men and women using decision trees, random forests, support vector machines, k-nearest neighbors, extreme gradient boosting, and artificial neural networks (ANNs) to predict osteoporosis. Furthermore, we compared each model with the traditional Osteoporosis Self-Assessment Tool for Asians (OSTA) model.</div></div><div><h3>Results</h3><div>We identified age, height, weight, and BMI as variables for our prediction model and evaluated the model's performance using the area under the receiver operating characteristic curve (AUC). The ANN model significantly outperformed the OSTA model and all the other ML models for both men and women (AUC: 0.67 for men; 0.77 for women). The validation data for the ANN model showed similar AUCs for both men and women.</div></div><div><h3>Conclusion</h3><div>This study developed ML models to help identify individuals at high risk of osteoporosis in postmenopausal women and men aged ≥50 years in southern Taiwan. Our ML models, especially the ANN model, surpassed the OSTA model and consistently performed well across different populations.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"24 ","pages":"Article 101826"},"PeriodicalIF":2.1,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11783436/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078586","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ano5Cys360Tyr mutation leads to bone dysfunction of gnathodiaphyseal dysplasia via disturbing Akt signaling","authors":"Hongyu Li,&nbsp;Shengnan Wang,&nbsp;Shuai Zhang,&nbsp;Rui Dong,&nbsp;Congcong Miao,&nbsp;Zhenchuan Tian,&nbsp;Ying Hu","doi":"10.1016/j.bonr.2025.101825","DOIUrl":"10.1016/j.bonr.2025.101825","url":null,"abstract":"<div><h3>Background</h3><div>Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant genetic disease characterized by osteosclerosis of the tubular bones and cemento-osseous lesions of the mandibles. <em>Anoctamin 5</em> (<em>ANO5</em>) is the pathogenic gene, however, the specific molecular mechanism of GDD remains unclear. Herein, a knockin (<em>Ano5</em>^{<em>KI/KI</em>}) mouse model expressing the human mutation p.Cys360Tyr was used to investigate the role of Akt signaling in enhanced osteogenesis and decreased osteoclastogenesis in GDD.</div></div><div><h3>Methods</h3><div>Bone marrow-derived macrophages (BMMs) and mouse calvarial osteoblasts (mCOBs) were isolated from homozygous <em>Ano5</em>^{<em>KI/KI</em>} mice and treated with SC79, a specific Akt activator. The differentiation and F-actin ring formation of osteoclasts were examined by TRAP and phalloidin staining, respectively. Osteoblast differentiation and mineralization were examined by ALP and alizarin red staining. The expression of bone remodeling-related factors was measured by qRT-PCR.</div></div><div><h3>Results</h3><div>Akt activation promoted the generation of TRAP-positive multinucleated osteoclasts and the formation of actin rings in <em>Ano5</em>^{<em>KI/KI</em>} BMMs cultures, accompanied by increased expression of <em>Nfatc1</em>, <em>Trap</em>, <em>Dc-stamp</em>, <em>Mmp9</em>, <em>Ctsk</em>, and <em>Atp6v0d2</em>. Additionally, <em>Ano5</em>^{<em>Cys360Tyr</em>} mutation down-regulated the Akt phosphorylation level in osteoblast. ALP activity and matrix mineralization capacity in <em>Ano5</em>^{<em>KI/KI</em>} osteoblast cultures were inhibited after SC79 stimulation, with reduced expression of <em>Runx2, Opn, Col1a1</em>, <em>and Ocn</em>.</div></div><div><h3>Conclusion</h3><div>Akt activation by SC79 stimulation can obviously rescue abnormal increased osteogenesis and decreased osteoclastogenesis in <em>Ano5</em>^{<em>KI/KI</em>} mouse model, which demonstrated that disturbed Akt signaling pathway may play a pivotal role in the pathogenesis of GDD, and an Akt activator is probable a therapeutic target for GDD.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"24 ","pages":"Article 101825"},"PeriodicalIF":2.1,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763220/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143045635","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}