1st Propedeutic Department of Surgery, AHEPA University Hospital of Thessaloniki, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Laboratory of Pathology, Faculty of Medicine, School of Health Sciences, Aristotle University, Thessaloniki, Greece.
Front Endocrinol (Lausanne). 2023 May 8;14:1180211. doi: 10.3389/fendo.2023.1180211. eCollection 2023.
INTRODUCTION: Primary HPT (PHPT) is a common disorder, affecting approximately 1% of the general population. Parathyroid adenomas emerge as non-familial sporadic in 90% of cases. The aim of this review is to give a detailed update of molecular genetics of sporadic parathyroid adenoma reported in international literature. METHODS: A bibliographic research was conducted in PubMed, Google Scholar, and Scopus. RESULTS: Seventy-eight articles were included in our review. CaSR, MEN1, CCND1/PRAD, CDKI, angiogenic factors like VEGF, FGF, TGFβ, and IGF1, and apoptotic factors are important genes in parathyroid adenomas pathogenesis that have been established by several studies. A huge list of proteins is differently expressed in parathyroid adenomas measured by Western Blotting, MALDI/TOF, MS spectrometry, and immunohistochemistry. These proteins take part in several cell processes such as cell metabolism, cytoskeleton structural stability, cell oxidative stress regulation, cell death, transcription, translation, cell connection, and cell signaling transmission, while they can be found over- or underexpressed in abnormal tissues. CONCLUSION: This review gives a detailed analysis of all reported data on genomics and proteomics of parathyroid adenoma. Further studies should be applied on understanding parathyroid adenoma pathogenesis and introducing new biomarkers for early detection of primary hyperparathyroidism.
简介:原发性甲状旁腺功能亢进症(PHPT)是一种常见疾病,影响约 1%的普通人群。甲状旁腺腺瘤在 90%的病例中是非家族性散发性的。本综述的目的是详细介绍国际文献中报道的散发性甲状旁腺腺瘤的分子遗传学。
方法:在 PubMed、Google Scholar 和 Scopus 上进行了文献检索。
结果:共纳入 78 篇文章。钙敏感受体(CaSR)、MEN1、CCND1/PRAD、细胞周期蛋白依赖性激酶抑制剂(CDKI)、血管生成因子如血管内皮生长因子(VEGF)、成纤维细胞生长因子(FGF)、转化生长因子β(TGFβ)和胰岛素样生长因子 1(IGF1)以及凋亡因子是几个研究已经确定的甲状旁腺腺瘤发病机制中的重要基因。Western Blotting、MALDI/TOF、MS 谱和免疫组织化学等方法测量的甲状旁腺腺瘤中存在大量差异表达的蛋白质。这些蛋白质参与细胞代谢、细胞骨架结构稳定性、细胞氧化应激调节、细胞死亡、转录、翻译、细胞连接和细胞信号转导等多种细胞过程,同时在异常组织中可能存在过表达或低表达。
结论:本综述对甲状旁腺腺瘤的基因组学和蛋白质组学的所有报道数据进行了详细分析。进一步的研究应该应用于理解甲状旁腺腺瘤的发病机制,并引入新的生物标志物用于原发性甲状旁腺功能亢进症的早期检测。
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