Öz
Aim. Nitric oxide synthesis, 3-isoform in the nitric oxide synthase is regulated by the enzyme. These endothelial nitric oxide synthase (eNOS), neuronal nitric oxide synthase (nNOS) and inducible nitric oxide synthase (iNOS). eNOS, regulates the diameter of arterial vessels. Functional activity is outside the structural activity. In this study, eNOS gene, a structural vascular pathology of the two polymorphisms which compared the relationship between ruptured intracranial aneurysm. Method. Endothelial nitric oxide synthase gene intron 4 (27 base pair repeat) and promoter T786C polymorphism of 43 patients with ruptured intracranial aneurysms and 46 control subjects were analysed by polymerase chain reaction and DNA sequencing method. Genotype distribution and allele frequencies of endothelial nitric oxide synthase gene polymorphism in patients with ruptured intracranial aneurysm and healthy subjects were compared. Result. CC genotype frequency was significantly higher in patients with ruptured intracranial aneurysm. It was also found that presence of eNOS 786 CC genotype was significantly associated with risk of intracranial aneurysm rupture (p<0.05). No significant difference was found between patient and control groups as to endothelial nitric oxide synthase gene intron 4 (27 base pair repeat) polymorphism (p>0.05). Conclusion. T786C polymorphism in endothelial nitric oxide synthase gene seems to be a possible risk factor for intracranial aneurysm rupture
Anahtar Kelimeler
Kaynakça
- Faraci FM, Brian JE. Nitric oxide and the cerebral circulation. Stroke 1994; 25: 692-70
- Menghini VV, Brown RD, Sicks JD, O’Fallon WM, Wieberg DO. Clinical manifettations and rates among patients with saccular intracranial aneurysms. Neurosurg 2001; 49: 251-8.
- Brendt DS, Synder SH. Nitric oxide, a novel neuronal messenger. Neuron 1992; 8: 3Moncada S. The L-arginine-nitric oxide pathway. Acta Physiol Scand 1992; 145: 201Kataoka K, Taneda M, Asai T, Kinoshita A, Ito M, Kuroda R. Structural fragility and inflammatory response of ruptured cerebral aneurysms. A comparative study between ruptured and unruptured cerebral aneurysms. Stroke 1999; 30: 1396-401. Kuhlecordt PJ, Gyurko R, Han F, Scherrer-Crosbie M, Aretz TH, Hajjar R, Picard MH, Huang PL. Accelerated atherosclerosis, aortic aneurysm formation, and ischemic hear disease in apolipoprotein endothellial nitric oxide synthase double-knockout mice. Circulation 2002; 104: 448-54.
- Paik DC, Ramey WG, Dillon J. The nitrite/elastin reaction: implications for in vivo dejenerative effects. Connect Tissue Res 1997; 36: 241-51.
- Marsden PA, Heng HH, Scherer SB, Sterward RJ, Hall AB, Shi XM. Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene. J Biol Chem 1993; 268: 17478-8.
- Wattanapitayakul SK, Mihm MJ, Young AP, Bauer JA. Therapeutic implications of human endothelial nitric oxide synthase gene polymorphism. Trends Pharmacol Sci 2001; 22: 361-8.
- Butler WE, Barker FG II, Cromwel RM. Patients with polycystic kidney disease would benefit from routine magnetic resonance angiographic screening for intracerebral aneurysms: a decision analysis. Neurosurgery 1996; 38: 506-16.
- Gonzales-Gay MA. Inducible but not endothelial nitric oxide synthase polymorphism is associated with susceptibility to rheumatoid arthritis in northwest Spain. Rheumatology 2004; 43. 1182-5.
- Hingorani AD. Polimorphisms in endothelial nitric oxide synthase and atherogenesis. Atherosclerosis 2000; 154: 521-6.
- Kotani K,Shimomura T, Murakami F, Ikawa S, Kanaoka Y, Ohgi S, Adachi K, Nanba E. Allele frequency of human endothelial nitric oxide synthase gene polymorphism in abdominal aortic aneurysm. Intern Med 2000; 39: 537-9.
- Kim J. U, Chang HK, Lee SS. Endothelial nitric oxide synthase gene polymorphisms in Behçet’s disease and rheumatic diseases with vasculitis. Ann Rheum Dis 1998; 62: 1083-7.
- Miyamoto Y. Saito Y, Kajiyama N, Yoshmura M, Shimasaki Y, Nakayama M, Kamitani S, Harada M. Endothelial nitric oxide synthase gene is positively associated with essential hypertension. Hypertension 1998; 32: 3-8.
- Johanning JM, Armstrong PJ, Franklin DP. Nitric oxide in experimental aneurysm formation: early events and consequences of nitric oxide inhibition. Ann Vasc Surg 2002; 16: 65-72.
- Moon J, Yoon S, Kim E. Lack of evidence for contribution of Glu298Asp (G894T) polimorphism of endothelial nitric oxide synthhase gene to plasma nitric oxide levels. Thrombosis Res 2002; 107: 129-34.
- Tsukada T, Yokoyama K, Arai T, Takemoto F, Hara S, Yamada A. Evidence of association of the eNOS gene polymorphism with plasma NO metabolite levels in humans. Biochem Biophys Res Commun 1998; 245: 190-3.
- Fukuda S, Hashimoto N, Naritomi H: Prevention of rat cerebral aneurysm formation by inhibitoin of nitric oxide synthase. Circulation 2000; 101: 2532-8.
- Johanning JM, Franklin PD, Man DC. Inhibition of inductible nitric oxide synthase limits nitric oxide production and experimental aneurysm expansion. J Vasc Surg 2001; 33: 579-86.
- Khurana VG, Sohni YR, Mangrum WI. Endothelial nitric oxide synthase T-786C single nucleotide polymorphism. A Putative genetic marker differentiating small versus large ruptured intracranial aneurysms. Stroke 2003; 2255-9.
- Song M, Kim M, Kim T, Joo S, Park M, Kim B, Cho K. Endothelial nitric oxide gene T-786C polymorphism and subarachnoid hemorrhage in Korean population. J Korean Med Sci 2006; 21: 922-6.
- Akogova H, Kasuya H, Onda H, Yoneyama T, Sasahara A, Kim CJ, Lee JC, Yang TK, Hori T, İnoue I. Influence of endothelial nitric oxide synthase T-786C single nucleotide polymorphism on aneurysm size. J Neurosurg 2005; 102: 68
- Özüm Ü, Bolat N, Gül E, Özdemir Ö. Endothelial nitric oxide synthase gene (G894T) polymorphism as a possible risc factor in aneurysmal subarachnoid haemorrhage. Acta Neurochir 2008; 150: 57-62.
- Ko N, Ranjendran P, Kim H, Rutkowski M, Pawlikowska L, Kwonk p, Higashida R, Lawton M, Smith W, Zaroff J, Young W. Endothelial nitric oxide synthase polymorphism (-786T>C) and increased risk of angiographic vasospazm after aneurysmal subarachnoid hemorrhage: Stroke 2008; 39: 1103-8.
Kanamış kafa içi anevrizması olan hastalarda endotelyal nitrik oksit sentaz (eNOS) geninin intron 4 (27 baz çifti tekrarı) ve promoter T786C polimorfizmi
Öz
Özet
Amaç. Nitrik Oksit (NO) sentezi, 3 izoformu bulunan nitrik oksit sentaz enzimi tarafından düzenlenmektedir. Bunlar Endotelyal Nitrik Oksit Sentaz (eNOS), nöronal nitrik oksit sentaz (nNOS) ve indüklenebilir nitrik oksit sentaz (iNOS). ENOS, arter damar çapını düzenlemektedir, İşlevsel etkinliği dışında yapısal etkinliği de tespit edilmiştir. Bu çalışmada eNOS genindeki iki polimorfizmle bir yapısal damar patolojisi olan kanamış kafa içi anevrizma varlığı arasındaki ilişki araştırıldı. Yöntem. Kanamış kafa içi anevrizması olan 43 hasta ve 46 sağlıklı bireyin DNA'larında eNOS geni intron 4 (27 baz çifti tekrarı) ve promoter T786C polimorfizmi jel elektroforez ve dizileme tekniği ile incelendi. Bulgular. CC homozigot genotip varlığı kanamış kafa içi anevrizması olan hasta grubunda anlamlı olarak yüksek olarak tespit edilmiştir (p<0,05). Hasta ve kontrol grupları arasında intron 4 (27 baz çifti tekrarı) açısından anlamlı fark tespit edilememiştir (p>0,05). Sonuç. Homozigot T786C genotip varlığı çalışmaya aldığımız yöresel hasta grubunda kanamış kafa içi anevrizma varlığı açısından risk sebebi olarak görülmektedir. İntron 4 (27 baz çifti tekrarı) polimorfizminin varlığı ise risk teşkil etmemektedir.
Anahtar sözcükler: eNOS, nitrik oksit, anevrizma, SAK, polimorfizm
Abstract
Aim. Nitric oxide synthesis, 3-isoform in the nitric oxide synthase is regulated by the enzyme. These endothelial nitric oxide synthase (eNOS), neuronal nitric oxide synthase (nNOS) and inducible nitric oxide synthase (iNOS). eNOS, regulates the diameter of arterial vessels. Functional activity is outside the structural activity. In this study, eNOS gene, a structural vascular pathology of the two polymorphisms which compared the relationship between ruptured intracranial aneurysm. Method. Endothelial nitric oxide synthase gene intron 4 (27 base pair repeat) and promoter T786C polymorphism of 43 patients with ruptured intracranial aneurysms and 46 control subjects were analysed by polymerase chain reaction and DNA sequencing method. Genotype distribution and allele frequencies of endothelial nitric oxide synthase gene polymorphism in patients with ruptured intracranial aneurysm and healthy subjects were compared. Result. CC genotype frequency was significantly higher in patients with ruptured intracranial aneurysm. It was also found that presence of eNOS 786 CC genotype was significantly associated with risk of intracranial aneurysm rupture (p<0.05). No significant difference was found between patient and control groups as to endothelial nitric oxide synthase gene intron 4 (27 base pair repeat) polymorphism (p>0.05). Conclusion. T786C polymorphism in endothelial nitric oxide synthase gene seems to be a possible risk factor for intracranial aneurysm rupture
Keywords: eNOS, Nitric oxide, intracranial aneurysm, SAH, polymorphismAnahtar Kelimeler
Kaynakça
- Faraci FM, Brian JE. Nitric oxide and the cerebral circulation. Stroke 1994; 25: 692-70
- Menghini VV, Brown RD, Sicks JD, O’Fallon WM, Wieberg DO. Clinical manifettations and rates among patients with saccular intracranial aneurysms. Neurosurg 2001; 49: 251-8.
- Brendt DS, Synder SH. Nitric oxide, a novel neuronal messenger. Neuron 1992; 8: 3Moncada S. The L-arginine-nitric oxide pathway. Acta Physiol Scand 1992; 145: 201Kataoka K, Taneda M, Asai T, Kinoshita A, Ito M, Kuroda R. Structural fragility and inflammatory response of ruptured cerebral aneurysms. A comparative study between ruptured and unruptured cerebral aneurysms. Stroke 1999; 30: 1396-401. Kuhlecordt PJ, Gyurko R, Han F, Scherrer-Crosbie M, Aretz TH, Hajjar R, Picard MH, Huang PL. Accelerated atherosclerosis, aortic aneurysm formation, and ischemic hear disease in apolipoprotein endothellial nitric oxide synthase double-knockout mice. Circulation 2002; 104: 448-54.
- Paik DC, Ramey WG, Dillon J. The nitrite/elastin reaction: implications for in vivo dejenerative effects. Connect Tissue Res 1997; 36: 241-51.
- Marsden PA, Heng HH, Scherer SB, Sterward RJ, Hall AB, Shi XM. Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene. J Biol Chem 1993; 268: 17478-8.
- Wattanapitayakul SK, Mihm MJ, Young AP, Bauer JA. Therapeutic implications of human endothelial nitric oxide synthase gene polymorphism. Trends Pharmacol Sci 2001; 22: 361-8.
- Butler WE, Barker FG II, Cromwel RM. Patients with polycystic kidney disease would benefit from routine magnetic resonance angiographic screening for intracerebral aneurysms: a decision analysis. Neurosurgery 1996; 38: 506-16.
- Gonzales-Gay MA. Inducible but not endothelial nitric oxide synthase polymorphism is associated with susceptibility to rheumatoid arthritis in northwest Spain. Rheumatology 2004; 43. 1182-5.
- Hingorani AD. Polimorphisms in endothelial nitric oxide synthase and atherogenesis. Atherosclerosis 2000; 154: 521-6.
- Kotani K,Shimomura T, Murakami F, Ikawa S, Kanaoka Y, Ohgi S, Adachi K, Nanba E. Allele frequency of human endothelial nitric oxide synthase gene polymorphism in abdominal aortic aneurysm. Intern Med 2000; 39: 537-9.
- Kim J. U, Chang HK, Lee SS. Endothelial nitric oxide synthase gene polymorphisms in Behçet’s disease and rheumatic diseases with vasculitis. Ann Rheum Dis 1998; 62: 1083-7.
- Miyamoto Y. Saito Y, Kajiyama N, Yoshmura M, Shimasaki Y, Nakayama M, Kamitani S, Harada M. Endothelial nitric oxide synthase gene is positively associated with essential hypertension. Hypertension 1998; 32: 3-8.
- Johanning JM, Armstrong PJ, Franklin DP. Nitric oxide in experimental aneurysm formation: early events and consequences of nitric oxide inhibition. Ann Vasc Surg 2002; 16: 65-72.
- Moon J, Yoon S, Kim E. Lack of evidence for contribution of Glu298Asp (G894T) polimorphism of endothelial nitric oxide synthhase gene to plasma nitric oxide levels. Thrombosis Res 2002; 107: 129-34.
- Tsukada T, Yokoyama K, Arai T, Takemoto F, Hara S, Yamada A. Evidence of association of the eNOS gene polymorphism with plasma NO metabolite levels in humans. Biochem Biophys Res Commun 1998; 245: 190-3.
- Fukuda S, Hashimoto N, Naritomi H: Prevention of rat cerebral aneurysm formation by inhibitoin of nitric oxide synthase. Circulation 2000; 101: 2532-8.
- Johanning JM, Franklin PD, Man DC. Inhibition of inductible nitric oxide synthase limits nitric oxide production and experimental aneurysm expansion. J Vasc Surg 2001; 33: 579-86.
- Khurana VG, Sohni YR, Mangrum WI. Endothelial nitric oxide synthase T-786C single nucleotide polymorphism. A Putative genetic marker differentiating small versus large ruptured intracranial aneurysms. Stroke 2003; 2255-9.
- Song M, Kim M, Kim T, Joo S, Park M, Kim B, Cho K. Endothelial nitric oxide gene T-786C polymorphism and subarachnoid hemorrhage in Korean population. J Korean Med Sci 2006; 21: 922-6.
- Akogova H, Kasuya H, Onda H, Yoneyama T, Sasahara A, Kim CJ, Lee JC, Yang TK, Hori T, İnoue I. Influence of endothelial nitric oxide synthase T-786C single nucleotide polymorphism on aneurysm size. J Neurosurg 2005; 102: 68
- Özüm Ü, Bolat N, Gül E, Özdemir Ö. Endothelial nitric oxide synthase gene (G894T) polymorphism as a possible risc factor in aneurysmal subarachnoid haemorrhage. Acta Neurochir 2008; 150: 57-62.
- Ko N, Ranjendran P, Kim H, Rutkowski M, Pawlikowska L, Kwonk p, Higashida R, Lawton M, Smith W, Zaroff J, Young W. Endothelial nitric oxide synthase polymorphism (-786T>C) and increased risk of angiographic vasospazm after aneurysmal subarachnoid hemorrhage: Stroke 2008; 39: 1103-8.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Cerrahi Tıp Bilimleri Araştırma Yazıları |
| Yazarlar | |
| Yayımlanma Tarihi | 10 Temmuz 2013 |
| Yayımlandığı Sayı | Yıl 2013Cilt: 35 Sayı: 3 |