Identification of variations in genes encoding ATP-dependent potassium channel proteins in patients with primary Raynaud's phenomenon

Merih Akkapulu; Metin Yıldırım; Özden Vezir; Nehir Sucu; Ali Yalın

Makale detayları

Identification of variations in genes encoding ATP-dependent potassium channel proteins in patients with primary Raynaud's phenomenon

Yazarlar:

Merih Akkapulu | Metin Yıldırım | Özden Vezir | Nehir Sucu | Ali Yalın

Yayıncı:

Cukurova University

Ana Başlıklar:

Klinik Tıp Bilimleri

Dergi:

Cukurova Medical Journal Vol.48 Issue 1, pp.37-45

Belge Tipi:

Makale

Yayın Tarihi:

3/2023

Belge Dili:

İngilizce

Document ID (Org No.):

2001282224

pISSN:

2602-3032

Anahtar kelimeler:

Özet:

 Purpose: Primary Raynauds phenomenon PRP is a vascular disorder characterized by recurrent vasospastic response of the fingers and toes to cold or stress. ATP-sensitive potassium KATP channels are widely distributed in vasculatures, and play an important role in the vascular tone regulation. The major vascular isoform of KATP channels is composed of Kir6.1SUR2 KCNJ8ABCC9. It would be important to determine whether variations of KATP genes related to PRP is thought to be associated with vasospasm. It is believed that the studies describing mechanisms involved in the pathogenesis of inherited vascular disorders offers the best opportunity for investigation of the early stages of pathogenicity and diagnosis of PRP and associated other diseases. In this study we aim to investigate possible association between genetic variations observed in KATP channel coding genes and vasospasm associated with PRP. Materials and Methods: In our study; the cases with PRP, the relation between the variation in the KCNJ8ABCC9 genes S422LV734I or rs72554071rs61688134 was examined. 50 subjects who were diagnosed with PRP patient group and 50 healthy subjects control group were included in the study. Variations were determined using the Tetra-Primer Amplification Refractory Mutation System-Polymerase Chain Reaction T-ARMS PCR method. Results: Of the individuals in the patient and control group included in the study, 21 were male and 29 were female. The mean age of the patients was 25.73.36 years, and the mean age of the control group was 25.93.44 years. No significant relationship was found between PRP disease and genotype and allele distribution of KCNJ8ABCC9 genes. Conclusion: This study presented the first findings about KCNJ8ABCC9 gene variations in the Turkish population and may lead to future studies. Studies involving a higher number of cases and more mutations will be able to show whether there is a relationship between KATP channels and PRP and contribute to the elucidation of PRP pathogenesis in terms of genetic factors.

 Purpose: Primary Raynauds phenomenon PRP is a vascular disorder characterized by recurrent vasospastic response of the fingers and toes to cold or stress. ATP-sensitive potassium KATP channels are widely distributed in vasculatures, and play an important role in the vascular tone regulation. The major vascular isoform of KATP channels is composed of Kir6.1SUR2 KCNJ8ABCC9. It would be important to determine whether variations of KATP genes related to PRP is thought to be associated with vasospasm. It is believed that the studies describing mechanisms involved in the pathogenesis of inherited vascular disorders offers the best opportunity for investigation of the early stages of pathogenicity and diagnosis of PRP and associated other diseases. In this study we aim to investigate possible association between genetic variations observed in KATP channel coding genes and vasospasm associated with PRP. Materials and Methods: In our study; the cases with PRP, the relation between the variation in the KCNJ8ABCC9 genes S422LV734I or rs72554071rs61688134 was examined. 50 subjects who were diagnosed with PRP patient group and 50 healthy subjects control group were included in the study. Variations were determined using the Tetra-Primer Amplification Refractory Mutation System-Polymerase Chain Reaction T-ARMS PCR method. Results: Of the individuals in the patient and control group included in the study, 21 were male and 29 were female. The mean age of the patients was 25.73.36 years, and the mean age of the control group was 25.93.44 years. No significant relationship was found between PRP disease and genotype and allele distribution of KCNJ8ABCC9 genes. Conclusion: This study presented the first findings about KCNJ8ABCC9 gene variations in the Turkish population and may lead to future studies. Studies involving a higher number of cases and more mutations will be able to show whether there is a relationship between KATP channels and PRP and contribute to the elucidation of PRP pathogenesis in terms of genetic factors.

 Purpose: Primary Raynauds phenomenon PRP is a vascular disorder characterized by recurrent vasospastic response of the fingers and toes to cold or stress. ATP-sensitive potassium KATP channels are widely distributed in vasculatures, and play an important role in the vascular tone regulation. The major vascular isoform of KATP channels is composed of Kir6.1SUR2 KCNJ8ABCC9. It would be important to determine whether variations of KATP genes related to PRP is thought to be associated with vasospasm. It is believed that the studies describing mechanisms involved in the pathogenesis of inherited vascular disorders offers the best opportunity for investigation of the early stages of pathogenicity and diagnosis of PRP and associated other diseases. In this study we aim to investigate possible association between genetic variations observed in KATP channel coding genes and vasospasm associated with PRP. Materials and Methods: In our study; the cases with PRP, the relation between the variation in the KCNJ8ABCC9 genes S422LV734I or rs72554071rs61688134 was examined. 50 subjects who were diagnosed with PRP patient group and 50 healthy subjects control group were included in the study. Variations were determined using the Tetra-Primer Amplification Refractory Mutation System-Polymerase Chain Reaction T-ARMS PCR method. Results: Of the individuals in the patient and control group included in the study, 21 were male and 29 were female. The mean age of the patients was 25.73.36 years, and the mean age of the control group was 25.93.44 years. No significant relationship was found between PRP disease and genotype and allele distribution of KCNJ8ABCC9 genes. Conclusion: This study presented the first findings about KCNJ8ABCC9 gene variations in the Turkish population and may lead to future studies. Studies involving a higher number of cases and more mutations will be able to show whether there is a relationship between KATP channels and PRP and contribute to the elucidation of PRP pathogenesis in terms of genetic factors.

 Amaç: Primer Raynaud fenomeni PRF, el ve ayak parmaklarının soğuk veya stresle tekrarlayan vazospastik tepkisi ile karakterize vasküler bir hastalıktır. ATP-bağımlı potasyum KATP kanalları vaskülatürlerde yaygın olarak dağılır ve vasküler tonusun düzenlenmesinde önemli bir rol oynarlar. KATP kanallarının ana vasküler izoformu Kir6.1SUR2den KCNJ8ABCC9 oluşmaktadır. PRF ile ilgili KATP gen varyasyonlarının vazospazm ile ilişkili olup olmadığının belirlenmesi önemli olacaktır. Kalıtsal vasküler bozuklukların patogenezinde yer alan mekanizmaları açıklayan çalışmaların, patojenitenin erken evrelerinin araştırılması ve PRF ile ilişkili diğer hastalıkların teşhisi için en iyi fırsatı sunduğuna inanılmaktadır. Bu çalışmada, KATP kanalı kodlayan genlerde gözlenen genetik varyasyonlar ile PRP ile ilişkili vazospazm arasındaki olası ilişkiyi araştırmayı amaçladık. Gereç ve Yöntem: Çalışmamızda; PRFli olgularda KCNJ8ABCC9 genlerindeki S422LV734I veya rs72554071rs61688134 varyasyon arasındaki ilişki incelenmiştir. Çalışmaya PRF tanısı konan 50 kişi hasta grubu ve 50 sağlıklı kişi kontrol grubu dahil edilmiştir. Varyasyonlar Tetra-Primer Amplifikasyona Dirençli Mutasyon Sistemi-Polimeraz Zincir Reaksiyon T-ARMS PCR yöntemi kullanılarak belirlenmiştir. Bulgular: Çalışmaya dahil edilen hasta ve kontrol grubundaki bireylerin 21i erkek ve 29u kadındı. Hastaların yaş ortalaması 25.73.36, kontrol grubunun yaş ortalaması 25.93.44 yıldı. KCNJ8ABCC9 genlerinin genotip ve alel dağılımı ile PRF hastalığı arasında anlamlı bir ilişki bulunamamıştır. Sonuç: Bu çalışma Türk popülasyonunda KCNJ8ABCC9 gen varyasyonları ile ilgili ilk bulguları sunmuş olup, ileride yapılacak çalışmalara öncülük edebilecektir. Daha fazla vaka ve daha fazla mutasyon içeren çalışmaların KATP kanalları ile PRF arasında bir ilişki olup olmadığını gösterebilecek ve genetik faktörler açısından PRFnin patogenezinin aydınlatılmasına katkı sağlayacaktır.

Makale detayları

Identification of variations in genes encoding ATP-dependent potassium channel proteins in patients with primary Raynaud's phenomenon

Yazarlar:

Merih Akkapulu | Metin Yıldırım | Özden Vezir | Nehir Sucu | Ali Yalın

Yayıncı:

Cukurova University

Ana Başlıklar:

Klinik Tıp Bilimleri

Dergi:

Cukurova Medical Journal Vol.48 Issue 1, pp.37-45

Belge Tipi:

Makale

Yayın Tarihi:

3/2023

Belge Dili:

İngilizce

Document ID (Org No.):

2001282224

pISSN:

2602-3032

Raynaud’s Phenomenon

KATP Channel Proteins

KCNJ8/ABCC9 Genes

S422L/V734I (rs72554071/rs61688134) Variants.

Raynaud Fenomeni

KATP Kanal Proteinleri

KCNJ8/ABCC9 Genleri

S422L/V734I (rs72554071/rs61688134) Varyantları.

Sayı

Makale detayları

Yazarlar: Merih Akkapulu | Metin Yıldırım | Özden Vezir | Nehir Sucu | Ali Yalın

Yayıncı: Cukurova University

Ana Başlıklar: Klinik Tıp Bilimleri

Dergi: Cukurova Medical Journal Vol.48 Issue 1, pp.37-45

Belge Tipi: Makale

Yayın Tarihi: 3/2023

Belge Dili: İngilizce

Document ID (Org No.): 2001282224

pISSN: 2602-3032

Sayı

Yazarlar:

Merih Akkapulu | Metin Yıldırım | Özden Vezir | Nehir Sucu | Ali Yalın

Yayıncı:

Cukurova University

Ana Başlıklar:

Klinik Tıp Bilimleri

Dergi:

Cukurova Medical Journal Vol.48 Issue 1, pp.37-45

Belge Tipi:

Makale

Yayın Tarihi:

3/2023

Belge Dili:

İngilizce

Document ID (Org No.):

2001282224

pISSN:

2602-3032