Neuronal nos (nos1) polymorphism in patients with epilepsy: A pilot study

Temel Bulgular & Veri:Hastalar ve Yöntem:81 idyopatik epilepsi(n=45)ve epileptik ensefalopati(n=36) hastalarında ve 103 sağlıklı bireyde, nNOS geni içindeki intronik AAT üçlü nükleotid tekrarları polimeraz zincir reaksiyonu(PCR)yöntemi kullanılarak araştırıldı.Sonuçlar ve Yorum:Sağlıklı populasyonda 13 adet allel tanımlandı."401" allel sıklığı kontrollerde %21(43/206) ve epilepsi hastalarında %6.7(11/162)olarak bulunurken(OR=0.27 CI%95 0.10-0.70), "416" alleli idyopatik epilepsi gurubunda(%12)kontrollere oranla(%2.3) daha sık gözlendi.Aynı zamanda idyopatik epilepsi gurubunda "395"allelinin allel ve genotip sıklıkları epileptik ensefalopatili hasta gurubuna ornla 2.3 kat artmış görüldü.

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Sonuç & Katkı:Bulgularımız nNOS gen polimorfizmi ile epilepsi alt gurupları arasında muhtemel bir ilişkiyi desteklemektedir.

🔬Tür:Araştırma Makalesi

📍Kapsam:13 adet

⚙️Değişkenler:Alan Parametreleri

Özet

Amaç:Nöronal NOS(nNOS), beyinde nöronal nitrik oksid sentaz enzimi aracılığı ile L-argininden sentezlenir. Merkezi Sinir Sisteminde(MSS)sinaps plastisitesi, nörotransmiter salınımı, nöronların hasarı ve nöronların korunması gibi birçok fonksiyonu olan haberci bir moleküldür. Bu çalışma ile nNOS gen polimorfizminin epilepsi ile ilişkisi araştırılacaktır. Hastalar ve Yöntem:81 idyopatik epilepsi(n=45)ve epileptik ensefalopati(n=36) hastalarında ve 103 sağlıklı bireyde, nNOS geni içindeki intronik AAT üçlü nükleotid tekrarları polimeraz zincir reaksiyonu(PCR)yöntemi kullanılarak araştırıldı.Sonuçlar ve Yorum:Sağlıklı populasyonda 13 adet allel tanımlandı."401" allel sıklığı kontrollerde %21(43/206) ve epilepsi hastalarında %6.7(11/162)olarak bulunurken(OR=0.27 CI%95 0.10-0.70), "416" alleli idyopatik epilepsi gurubunda(%12)kontrollere oranla(%2.3) daha sık gözlendi.Aynı zamanda idyopatik epilepsi gurubunda "395"allelinin allel ve genotip sıklıkları epileptik ensefalopatili hasta gurubuna ornla 2.3 kat artmış görüldü. Bulgularımız nNOS gen polimorfizmi ile epilepsi alt gurupları arasında muhtemel bir ilişkiyi desteklemektedir.

Abstract

Background; Neuronal NOS (NOS) is widely produced in the brain from L-arginine catalysed by neuronal nitric oxide synthase. It has been identified as a multifunctional messenger molecule in the central nervous system (CNS) and it has been involved in synaptic plasticity, neurotransmitter release, neuronal damage, and neuroprotective events. The role of nNOS gene polymorphism in epilepsy is questioned in this study. Patients and Methods; Intronic AAT trinucleotide repeats in nNOS gene were examined in 81 patients with either idiopathic epilepsies (n= 45) and epileptic encephalopathies (n=36) and 103 control subjects, by using polymerase chain reaction (PCR).Results; Thirteen alleles were identified in healthy Turkish subjects. Frequencies for allele “401” were 21%, (n=43/206) and 6.7% (n=11/162) in the control group versus epileptics (OR 0.27 CI 95% 0.10-0.70); whereas, “416” was more frequent (12%) in idiopathic epilepsy group when compared with controls (2.3%). Also, allelic and genotypic frequencies for “395” were 2.3 fold increased in idiopathic group as compared to patients with epileptic encephalopathies .Conclusion; Polymorphisms of nNOS gene may be associated with several neurological diseases. Present data seem in support of such an association with certain types of epilepsies.

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Bu Makaleye Atıf Yap

DERVENT, A., DEMİRBİLEK, V., SALTİK, S., SAYİTOĞLU, A. M., ESKAZAN, E., ÖZBEK, U., ÜNLÜÇERÇİ, Y., BEKPİNAR, S. (2022). Neuronal nos (nos1) polymorphism in patients with epilepsy: A pilot study. Journal of Neurological Sciences (Turkish), Cilt: 23 - Sayı: 1, 20–25. https://ajindex.com/articles/565705

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