TY  - JOUR
T1  - Receptor gene expressions and their association with biochemical parameters in primary hyperparathyroidism patients
TT  - Türk primer hiperparatiroidizm hastalarında reseptör gen ekspresyonları ve klinik ve biyokimyasal parametrelerle ilişkisi
AU  - Acar, Özge
PY  - 2025
DA  - September
Y2  - 2025
DO  - 10.38053/acmj.1752081
JF  - Anatolian Current Medical Journal
JO  - Anatolian Curr Med J / ACMJ / acmj
PB  - MediHealth Academy Yayıncılık
WT  - DergiPark
SN  - 2718-0115
SP  - 607
EP  - 612
VL  - 7
IS  - 5
LA  - en
AB  - Aims: Primary hyperparathyroidism (PHPT) is recognized by excessive parathyroid hormone (PTH) secretion, leading to hypercalcemia and systemic complications. This study aimed to investigate the gene expression profiles of PTH, calcium-sensing receptor (CaSR), vitamin D receptor (VDR), fibroblast growth factor receptor 1 (FGFR1), and α-Klotho from parathyroid adenomas among PHPT patients and to explore their correlations with biochemical parameters. Methods: Parathyroid adenoma samples were obtained from 20 PHPT patients who underwent parathyroidectomy. RNA was isolated, and gene expression levels were quantified using one-step reverse transcription quantitative PCR (RT-qPCR). Fold change values were calculated utilizing gene-specific patient average ΔCt values as references. Biochemical data, including serum calcium, phosphorus, PTH, and vitamin D (25-OH), as well as gender, age, and adenoma volumes, were statistically analyzed for correlation with gene expression patterns. Results: Gene expression analysis revealed significantly lower CaSR expression in small adenomas (
KW  - Primary hyperparathyroidism (PHPT)
KW  - calcium-sensing receptor (CaSR)
KW  - PTH
KW  - vitamin D receptor (VDR)
KW  - fibroblast 
growth factor receptor 1 (FGFR1)
KW  - α-Klotho
N2  - Amaç: Primer hiperparatiroidizm (PHPT), aşırı paratiroid hormonu (PTH) salgılanmasıyla tanınır ve hiperkalsemiye ve sistemik komplikasyonlara yol açar. Bu çalışma, Türk PHPT hastalarında paratiroid adenomlarından PTH, kalsiyum algılayıcı reseptör (CaSR), vitamin D reseptörü (VDR), fibroblast büyüme faktörü reseptörü 1 (FGFR1) ve α-Klotho genlerinin ekspresyon profillerini araştırmayı ve bunların klinik ve biyokimyasal parametrelerle ilişkilerini incelemeyi amaçlamıştır. Yöntemler: Paratiroid adenom örnekleri, paratiroidektomi geçiren 20 PHPT hastasından elde edildi. RNA izole edildi ve gen ekspresyon düzeyleri tek adımlı ters transkripsiyon kantitatif PCR (RT-qPCR) kullanılarak ölçüldü. Kat değişim değerleri, gen spesifik hasta ortalama ΔCt değerleri referans olarak kullanılarak hesaplandı. Serum kalsiyum, fosfor, PTH ve vitamin D (25-OH) gibi biyokimyasal veriler ile cinsiyet, yaş ve adenom hacimleri, gen ekspresyon paternleri ile korelasyon açısından istatistiksel olarak analiz edildi.Sonuçlar: Gen ekspresyon analizi, küçük adenomlarda (
CR  - Kim SJ, Shoback DM. Sporadic primary hyperparathyroidism. Endocrinol Metab Clin North Am. 2021;50(4):609-628. doi:10.1016/j.ecl. 2021.07.006
CR  - Madkhali T, Alhefdhi A, Chen H, Elfenbein D. Primary hyperparathyroidism. Ulus Cerrahi Derg. 2016;32(1):58-66. doi:10.5152/UCD.2015.3032
CR  - Fedorova T, Hagglund K, Hawasli A. The normohormonal primary hyperparathyroidism; a surgical dilemma pre and intra-operatively. Am J Surg. 2022;223(3):589-591. doi:10.1016/j.amjsurg.2022.01.002
CR  - Yano S, Sugimoto T, Tsukamoto T, et al. Decrease in vitamin D receptor and calcium-sensing receptor in highly proliferative parathyroid adenomas. Eur J Endocrinol. 2003;148(4):403-411. doi:10.1530/eje.0. 1480403
CR  - Li X, Lu Y, Zhang L, et al. Primary and secondary hyperparathyroidism present different expressions of calcium-sensing receptor. BMC Surg. 2023;23(1):31. doi:10.1186/s12893-023-01928-5
CR  - Rao S, Han, Phillips ER, Palnitkar S, Parfitt. Reduced vitamin D receptor expression in parathyroid adenomas: implications for pathogenesis. Clin Endocrinol. 2000;53(3):373-381. doi:10.1046/j.1365-2265.2000.01081.x
CR  - Singh P, Bhadada SK, Dahiya D, et al. Reduced calcium sensing receptor (CaSR) expression is epigenetically deregulated in parathyroid adenomas. J Clin Endocrinol Metab. 2020;105(9):3015-3024. doi:10.1210/clinem/dgaa419
CR  - Hendy GN, Canaff L. Calcium-sensing receptor gene: regulation of expression. Front Physiol. 2016;7:394. doi:10.3389/fphys.2016.00394
CR  - Carling T, Rastad J, Szabó E, Westin G, Åkerström Gr. Reduced parathyroid vitamin D receptor messenger ribonucleic acid levels in primary and secondary hyperparathyroidism*. J Clin Endocrinol Metab. 2000;85(5):2000-2003. doi:10.1210/jcem.85.5.6607
CR  - Kawakami K, Takeshita A, Furushima K, et al. Persistent fibroblast growth factor 23 signalling in the parathyroid glands for secondary hyperparathyroidism in mice with chronic kidney disease. Sci Rep. 2017;7:40534. doi:10.1038/srep40534
CR  - Yan J, Jingbo C, Wang D, et al. A correlation between decreased parathyroid α-Klotho and fibroblast growth factor receptor 1 expression with pathological category and parathyroid gland volume in dialysis patients. Int Urol Nephrol. 2015;47(4):701-706. doi:10.1007/s11255-015-0917-0
CR  - Yamashita H, Yamashita T, Miyamoto M, et al. Fibroblast growth factor (FGF)-23 in patients with primary hyperparathyroidism. Eur J Endocrinol. 2004;151(1):55-60. doi:10.1530/eje.0.1510055
CR  - Kobayashi K, Imanishi Y, Miyauchi A, et al. Regulation of plasma fibroblast growth factor 23 by calcium in primary hyperparathyroidism. Eur J Endocrinol. 2006;154(1):93-99. doi:10.1530/eje.1.02053
CR  - Özçelik S, Baş S, Çelik M, et al. Relationship of parathyroid adenoma volume with preoperative biochemical parameters. J Surg Med. 2019; 3(1):1-3. doi:10.28982/josam.435391
CR  - Korkmaz H. The diagnostic value of parathormone washout in Tc-99m MIBI negative primary hyperparathyroidism cases. Tc-99m MIBI negatif primer hiperparatiroidizm olgularında parathormon yıkamanın tanısal değeri. Acta Medica Alanya. 2021;5(1):61-65. doi:10. 30565/medalanya.853038
CR  - Alpdemir M, Alpdemir MF. Meta analysis vitamin D deficiency status in Turkey: a meta-analysis. Int J Med Biochem. 2019;2(3):118-131.
CR  - Usta A, Alhan E, Cinel A, Türkyılmaz S, Erem C. A 20-year study on 190 patients with primary hyperparathyroidism in a developing country: Turkey experience. Int Surg. 2015;100(4):648-655. doi:10.9738/intsurg-d-14-00094.1
CR  - Kirdak T, Duh Q-Y, Kebebew E, Clark OH. Do patients undergoing parathyroidectomy for primary hyperparathyroidism in San Francisco, CA, and Bursa, Turkey, differ? Am J Surg. 2009;198(2):188-192. doi:10. 1016/j.amjsurg.2008.09.031
CR  - Erkal MZ, Wilde J, Bilgin Y, et al. High prevalence of vitamin D deficiency, secondary hyperparathyroidism and generalized bone pain in Turkish immigrants in Germany: identification of risk factors. Osteoporos Int. 2006;17(8):1133-1140. doi:10.1007/s00198-006-0069-2
CR  - Varshney S, Bhadada SK, Saikia UN, et al. Simultaneous expression analysis of vitamin D receptor, calcium-sensing receptor, cyclin D1, and PTH in symptomatic primary hyperparathyroidism in Asian Indians. Eur J Endocrinol. 2013;169(1):109-116. doi:10.1530/eje-13-0085
CR  - Agarwal S, Kardam S, Chatterjee P, et al. CaSR expression in normal parathyroid and PHPT: new insights into pathogenesis from an autopsy-based study. J Endocrinol Invest.  2022;45(2):337-346. doi:10.1007/s40618-021-01646-w
CR  - Latus J, Lehmann R, Roesel M, et al. Involvement of α-Klotho, fibroblast growth factor-, vitamin-D- and calcium-sensing receptor in 53 patients with primary hyperparathyroidism. Endocrine. 2013;44(1):255-263. doi: 10.1007/s12020-013-9881-6
CR  - Naveh-Many T, Volovelsky O. Parathyroid cell proliferation in secondary hyperparathyroidism of chronic kidney disease. Int J Mol Sci.  2020;21(12):4332. doi:10.3390/ijms21124332
CR  - Özbey N, Erbil Y, Ademoğlu E, Özarmağan S, Barbaros U, Bozbora A. Correlations between Vitamin D status and biochemical/clinical and pathological parameters in primary hyperparathyroidism. World J Surg. 2006;30(3):1658. doi:10.1007/s00268-005-0239-y
CR  - Canaff L, Hendy GN. Human calcium-sensing receptor gene. Vitamin D response elements in promoters P1 and P2 confer transcriptional responsiveness to 1,25-dihydroxyvitamin D. J Biol Chem. 2002;277(33): 30337-30350. doi:10.1074/jbc.M201804200
CR  - Levine BS, Rodríguez M, Felsenfeld AJ. Serum calcium and bone: effect of PTH, phosphate, vitamin D and uremia. Nefrología (English Edition). 2014;34(5):658-669. doi:10.3265/Nefrologia.pre2014.Jun.12379
CR  - Kubat Öktem E, Yazar M, Aysan E, Karabıyık Acar Ö. Computational drug repurposing for primary hyperparathyroidism. Mol Cell Endocrinol. 2024;583:112159. doi:10.1016/j.mce.2024.112159
UR  - https://doi.org/10.38053/acmj.1752081
L1  - https://dergipark.org.tr/tr/download/article-file/5095687
ER  -