Receptor gene expressions and their association with biochemical parameters in primary hyperparathyroidism patients

Özge Acar

Makale detayları

Receptor gene expressions and their association with biochemical parameters in primary hyperparathyroidism patients

Yazarlar:

Özge Acar

Yayıncı:

MediHealth Academy Yayıncılık

Ana Başlıklar:

Endokrinoloji | Rejeneratif Tıp (kök hücreler dahil) | Doku Mühendisliği

Dergi:

Anatolian Current Medical Journal Vol.7 Issue 5, pp.607-612

Belge Tipi:

Makale

Yayın Tarihi:

9/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001358267

pISSN:

2718-0115

Anahtar kelimeler:

Özet:

 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 0.2 cm³ compared to medium and large adenomas, suggesting a possible association between tumor size and early molecular deregulation. Notably, CaSR expression exhibited a positive correlation with the expression levels of both VDR and FGFR1, suggesting the presence of a coordinated regulatory network encompassing calcium and vitamin D pathways. A multiple regression model revealed that serum vitamin D and PTH gene expression serve as positive predictors of CaSR expression, whereas serum PTH levels were negatively associated. A paradoxical positive correlation was observed between serum calcium levels and PTH gene expression, which may reflect impaired feedback control due to CaSR downregulation. Conclusion: These findings may provide new insights into the pathophysiology of PHPT, highlighting the importance of molecular profiling in understanding disease progression. The established expression patterns and their biochemical correlations may strengthen future efforts toward population-specific diagnosis and targeted therapeutic approaches, particularly in regions with high vitamin D deficiency and distinct disease severity profiles.

 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 0.2 cm³ compared to medium and large adenomas, suggesting a possible association between tumor size and early molecular deregulation. Notably, CaSR expression exhibited a positive correlation with the expression levels of both VDR and FGFR1, suggesting the presence of a coordinated regulatory network encompassing calcium and vitamin D pathways. A multiple regression model revealed that serum vitamin D and PTH gene expression serve as positive predictors of CaSR expression, whereas serum PTH levels were negatively associated. A paradoxical positive correlation was observed between serum calcium levels and PTH gene expression, which may reflect impaired feedback control due to CaSR downregulation. Conclusion: These findings may provide new insights into the pathophysiology of PHPT, highlighting the importance of molecular profiling in understanding disease progression. The established expression patterns and their biochemical correlations may strengthen future efforts toward population-specific diagnosis and targeted therapeutic approaches, particularly in regions with high vitamin D deficiency and distinct disease severity profiles.

 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 0.2 cm³ compared to medium and large adenomas, suggesting a possible association between tumor size and early molecular deregulation. Notably, CaSR expression exhibited a positive correlation with the expression levels of both VDR and FGFR1, suggesting the presence of a coordinated regulatory network encompassing calcium and vitamin D pathways. A multiple regression model revealed that serum vitamin D and PTH gene expression serve as positive predictors of CaSR expression, whereas serum PTH levels were negatively associated. A paradoxical positive correlation was observed between serum calcium levels and PTH gene expression, which may reflect impaired feedback control due to CaSR downregulation. Conclusion: These findings may provide new insights into the pathophysiology of PHPT, highlighting the importance of molecular profiling in understanding disease progression. The established expression patterns and their biochemical correlations may strengthen future efforts toward population-specific diagnosis and targeted therapeutic approaches, particularly in regions with high vitamin D deficiency and distinct disease severity profiles.

 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 0,2 cm³ orta ve büyük adenomlara kıyasla CaSR ekspresyonunun önemli ölçüde daha düşük olduğunu ortaya koydu, bu da tümör boyutu ile erken moleküler düzensizlik arasında olası bir ilişki olduğunu düşündürdü. Özellikle, CaSR ekspresyonu hem VDR hem de FGFR1 ekspresyon düzeyleri ile pozitif korelasyon gösterdi, bu da kalsiyum ve vitamin D yolaklarını kapsayan koordineli bir düzenleyici ağın varlığını düşündürmektedir. Çoklu regresyon modeli, serum vitamin D ve PTH gen ekspresyonunun CaSR ekspresyonunun pozitif belirleyicileri olduğunu, serum PTH düzeylerinin ise negatif ilişkili olduğunu ortaya koydu. Serum kalsiyum düzeyleri ile PTH gen ekspresyonu arasında paradoksal bir pozitif korelasyon gözlemlenmiştir, bu da CaSRnin aşağı regülasyonu nedeniyle bozulmuş geri besleme kontrolünü yansıtıyor olabilir. Sonuç: Bu bulgular, PHPTnin patofizyolojisine yeni bir bakış açısı getirerek, hastalığın ilerlemesini anlamada moleküler profillemenin önemini vurgulamaktadır. Belirlenen ekspresyon paternleri ve bunların biyokimyasal korelasyonları, özellikle vitamin D eksikliğinin yüksek olduğu ve hastalık şiddetinin belirgin olduğu bölgelerde, popülasyona özgü tanı ve hedefe yönelik terapötik yaklaşımlara yönelik gelecekteki çabaları güçlendirebilir.

Makale detayları

Receptor gene expressions and their association with biochemical parameters in primary hyperparathyroidism patients

Yazarlar:

Özge Acar

Yayıncı:

MediHealth Academy Yayıncılık

Ana Başlıklar:

Endokrinoloji | Rejeneratif Tıp (kök hücreler dahil) | Doku Mühendisliği

Dergi:

Anatolian Current Medical Journal Vol.7 Issue 5, pp.607-612

Belge Tipi:

Makale

Yayın Tarihi:

9/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001358267

pISSN:

2718-0115

Primary hyperparathyroidism (PHPT)

calcium-sensing receptor (CaSR)

PTH

vitamin D receptor (VDR)

fibroblast growth factor receptor 1 (FGFR1)

α-KlothoKalsiyum algılayıcı reseptör (CaSR)

PTH

D vitamini reseptörü (VDR)

Fibroblast büyüme faktörü reseptörü 1 (FGFR1)

α-Klotho

Primer hiperparatiroidizm (PHPT)

Sayı

Makale detayları

Yazarlar: Özge Acar

Yayıncı: MediHealth Academy Yayıncılık

Ana Başlıklar: Endokrinoloji | Rejeneratif Tıp (kök hücreler dahil) | Doku Mühendisliği

Dergi: Anatolian Current Medical Journal Vol.7 Issue 5, pp.607-612

Belge Tipi: Makale

Yayın Tarihi: 9/2025

Belge Dili: İngilizce

Document ID (Org No.): 2001358267

pISSN: 2718-0115

Sayı

Yazarlar:

Özge Acar

Yayıncı:

MediHealth Academy Yayıncılık

Ana Başlıklar:

Endokrinoloji | Rejeneratif Tıp (kök hücreler dahil) | Doku Mühendisliği

Dergi:

Anatolian Current Medical Journal Vol.7 Issue 5, pp.607-612

Belge Tipi:

Makale

Yayın Tarihi:

9/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001358267

pISSN:

2718-0115