Background:The PTCH1 gene,also known as Patched 1,is located on the long arm of human chromosome 9(9q22.3).It encodes the PTCH1 protein,which is a critical transmembrane receptor within the Hedgehog signaling pathway(...Background:The PTCH1 gene,also known as Patched 1,is located on the long arm of human chromosome 9(9q22.3).It encodes the PTCH1 protein,which is a critical transmembrane receptor within the Hedgehog signaling pathway(Hh),playing a pivotal role in cellular communication and developmental processes.Recent studies have highlighted the significance of mutations in PTCH1 in the pathogenesis of lung cancer,positioning it as a crucial molecule for investigation in oncology.Purpose:This review aims to elucidate the role of the PTCH1 and the Hedgehog pathway in the initiation,progression,and potential treatment of lung cancer,thereby providing a theoretical foundation for personalized and precise therapeutic strategies.Method:To ensure a comprehensive review,this study systematically searched for literature related to the PTCH1,lung cancer,and the Hedgehog pathway across multiple databases including PubMed,Web of Science,and CNKI(China National Knowledge Infrastructure).The search strategy involved using specific keywords and advanced filtering options to include the most relevant and recent studies.Initial screening excluded irrelevant articles,followed by a detailed evaluation of the selected studies based on their scientific quality and relevance.Results:This review indicated that specific mutations in the PTCH1 gene are closely associated with the onset and progression of lung cancer.These mutations impede normal Hedgehog signaling,leading to unregulated cell proliferation and tumor growth.Targeting PTCH1,including vismodegib,have shown efficacy in clinical cases,particularly in SCCL with specific PTCH1 mutations,leading to complete remissions.Furthermore,the interaction between PTCH1 and microRNA-212 suggests potential therapeutic approaches by targeting miRNA to regulate PTCH1 expression.In addition,the investigation of traditional Chinese medicines such as Ginsenosides and Cordyceps sinensis extracts has shown their potential to modulate the Hedgehog pathway and reverse drug resistance.Conclusions:An in-depth understanding of the precise mechanisms by which PTCH1 mutations promote lung cancer could facilitate the development of targeted therapies.This study highlights the potential of PTCH1 as a biomarker for diagnosis and a target for precision medicine in lung cancer treatment,advocating for further research into its molecular pathways and therapeutic applications.展开更多
Background: The PTCH1 gene, also known as Patched 1, is located on the long arm of human chromosome 9 (9q22.3). It encodes the PTCH1 protein, which is a critical transmembrane receptor within the Hedgehog signaling pa...Background: The PTCH1 gene, also known as Patched 1, is located on the long arm of human chromosome 9 (9q22.3). It encodes the PTCH1 protein, which is a critical transmembrane receptor within the Hedgehog signaling pathway (Hh), playing a pivotal role in cellular communication and developmental processes. Recent studies have highlighted the significance of mutations in PTCH1 in the pathogenesis of lung cancer, positioning it as a crucial molecule for investigation in oncology. Purpose: This review aims to elucidate the role of the PTCH1 and the Hedgehog pathway in the initiation, progression, and potential treatment of lung cancer, thereby providing a theoretical foundation for personalized and precise therapeutic strategies. Method: To ensure a comprehensive review, this study systematically searched for literature related to the PTCH1, lung cancer, and the Hedgehog pathway across multiple databases including PubMed, Web of Science, and CNKI (China National Knowledge Infrastructure). The search strategy involved using specific keywords and advanced filtering options to include the most relevant and recent studies. Initial screening excluded irrelevant articles, followed by a detailed evaluation of the selected studies based on their scientific quality and relevance. Results: This review indicated that specific mutations in the PTCH1 gene are closely associated with the onset and progression of lung cancer. These mutations impede normal Hedgehog signaling, leading to unregulated cell proliferation and tumor growth. Targeting PTCH1, including vismodegib, have shown efficacy in clinical cases, particularly in SCCL with specific PTCH1 mutations, leading to complete remissions. Furthermore, the interaction between PTCH1 and microRNA-212 suggests potential therapeutic approaches by targeting miRNA to regulate PTCH1 expression. In addition, the investigation of traditional Chinese medicines such as Ginsenosides and Cordyceps sinensis extracts has shown their potential to modulate the Hedgehog pathway and reverse drug resistance. Conclusions: An in-depth understanding of the precise mechanisms by which PTCH1 mutations promote lung cancer could facilitate the development of targeted therapies. This study highlights the potential of PTCH1 as a biomarker for diagnosis and a target for precision medicine in lung cancer treatment, advocating for further research into its molecular pathways and therapeutic applications.展开更多
文摘Background:The PTCH1 gene,also known as Patched 1,is located on the long arm of human chromosome 9(9q22.3).It encodes the PTCH1 protein,which is a critical transmembrane receptor within the Hedgehog signaling pathway(Hh),playing a pivotal role in cellular communication and developmental processes.Recent studies have highlighted the significance of mutations in PTCH1 in the pathogenesis of lung cancer,positioning it as a crucial molecule for investigation in oncology.Purpose:This review aims to elucidate the role of the PTCH1 and the Hedgehog pathway in the initiation,progression,and potential treatment of lung cancer,thereby providing a theoretical foundation for personalized and precise therapeutic strategies.Method:To ensure a comprehensive review,this study systematically searched for literature related to the PTCH1,lung cancer,and the Hedgehog pathway across multiple databases including PubMed,Web of Science,and CNKI(China National Knowledge Infrastructure).The search strategy involved using specific keywords and advanced filtering options to include the most relevant and recent studies.Initial screening excluded irrelevant articles,followed by a detailed evaluation of the selected studies based on their scientific quality and relevance.Results:This review indicated that specific mutations in the PTCH1 gene are closely associated with the onset and progression of lung cancer.These mutations impede normal Hedgehog signaling,leading to unregulated cell proliferation and tumor growth.Targeting PTCH1,including vismodegib,have shown efficacy in clinical cases,particularly in SCCL with specific PTCH1 mutations,leading to complete remissions.Furthermore,the interaction between PTCH1 and microRNA-212 suggests potential therapeutic approaches by targeting miRNA to regulate PTCH1 expression.In addition,the investigation of traditional Chinese medicines such as Ginsenosides and Cordyceps sinensis extracts has shown their potential to modulate the Hedgehog pathway and reverse drug resistance.Conclusions:An in-depth understanding of the precise mechanisms by which PTCH1 mutations promote lung cancer could facilitate the development of targeted therapies.This study highlights the potential of PTCH1 as a biomarker for diagnosis and a target for precision medicine in lung cancer treatment,advocating for further research into its molecular pathways and therapeutic applications.
文摘Background: The PTCH1 gene, also known as Patched 1, is located on the long arm of human chromosome 9 (9q22.3). It encodes the PTCH1 protein, which is a critical transmembrane receptor within the Hedgehog signaling pathway (Hh), playing a pivotal role in cellular communication and developmental processes. Recent studies have highlighted the significance of mutations in PTCH1 in the pathogenesis of lung cancer, positioning it as a crucial molecule for investigation in oncology. Purpose: This review aims to elucidate the role of the PTCH1 and the Hedgehog pathway in the initiation, progression, and potential treatment of lung cancer, thereby providing a theoretical foundation for personalized and precise therapeutic strategies. Method: To ensure a comprehensive review, this study systematically searched for literature related to the PTCH1, lung cancer, and the Hedgehog pathway across multiple databases including PubMed, Web of Science, and CNKI (China National Knowledge Infrastructure). The search strategy involved using specific keywords and advanced filtering options to include the most relevant and recent studies. Initial screening excluded irrelevant articles, followed by a detailed evaluation of the selected studies based on their scientific quality and relevance. Results: This review indicated that specific mutations in the PTCH1 gene are closely associated with the onset and progression of lung cancer. These mutations impede normal Hedgehog signaling, leading to unregulated cell proliferation and tumor growth. Targeting PTCH1, including vismodegib, have shown efficacy in clinical cases, particularly in SCCL with specific PTCH1 mutations, leading to complete remissions. Furthermore, the interaction between PTCH1 and microRNA-212 suggests potential therapeutic approaches by targeting miRNA to regulate PTCH1 expression. In addition, the investigation of traditional Chinese medicines such as Ginsenosides and Cordyceps sinensis extracts has shown their potential to modulate the Hedgehog pathway and reverse drug resistance. Conclusions: An in-depth understanding of the precise mechanisms by which PTCH1 mutations promote lung cancer could facilitate the development of targeted therapies. This study highlights the potential of PTCH1 as a biomarker for diagnosis and a target for precision medicine in lung cancer treatment, advocating for further research into its molecular pathways and therapeutic applications.
文摘目的探讨PTCH1基因rs28 377 268位点多态性与骨质疏松性椎体压缩骨折患者骨代谢标志物的关系。方法选取2016年1月至2016年6月我科脊柱组收治的骨质疏松性椎体压缩骨折患者(骨折组)和脊柱退行性病变骨质疏松患者(对照组)各80例。采用SNa Pshot法进行SNP分型,化学发光法测定骨代谢标志物:骨钙素(osteocalcin,OC)、Ⅰ型胶原羧基端肽β特殊序列(beta-crosslaps of type I collagen cross-linked C-telopeptide,β-CTX)、Ⅰ型前胶原氨基端前肽(procollagen I N-terminal propeptide,P1NP)、25-羟维生素D(25-hydroxyvitamin D,25(OH)D)、甲状旁腺激素(parathyroid hormone,PTH)浓度。比较两组等位基因频率、基因型频率分布及两组骨代谢标志物浓度差异,并分析PTCH1基因rs28 377 268位点多态性与骨代谢标志物浓度的关系。结果骨折组和对照组G、T等位基因频率均为80%、20%,两组GG、GT、TT基因型频率分别为66.25%、27.50%、6.25%和62.50%、35.00%、2.50%,无统计学意义(P>0.05)。骨折组中血清OC、PINP、β-CTX及25(OH)D浓度较对照组均无统计学意义,而PTH浓度明显高于对照组(P<0.05)。血清OC、PINP、β-CTX及25(OH)D浓度在GG、GT、TT3种基因型之间亦无统计学意义(P>0.05),血清PTH浓度在GT、TT基因型中均高于GG基因型,其中TT基因型显著高于GG、GT基因型(P<0.05)。结论 PTCH1基因rs28 377 268位点在骨质疏松患者中G、T等位基因的表达频率分别为80%、20%,rs28377268-T等位基因高表达可能间接升高血清PTH浓度,促进骨质疏松发生,增加椎体脆性骨折风险。
