Journals / Bakırköy Tıp Dergisi / 2015 / Cilt: 11 - Sayı: 3

The frequency of metilentetrahidrofolat reductase C6777T gene polymorphysm and mutations in patients with a history of stroke

İnme Öyküsü Olan Hastalarda Metilentetrahidrofolat Redüktaz C677T Gen Polimorfizminin ve Mutasyonların Sıklığı

Pages
99–102
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

We thought to extend our study by increasing the size and adding the homocysteine measurements for better results.

📌 3 Key Takeaways

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Objective & Hypothesis:Objective: Stroke, following heart disease and cancer, is the third most common cause of mortality and is the most common cause of morbidity in the world.
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Key Findings & Data:The polymorphysm in the methylenetetrahydrofolate reductase gene C677T results in reduced enzyme activity.
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Conclusion & Impact:We thought to extend our study by increasing the size and adding the homocysteine measurements for better results.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Objective: Stroke, following heart disease and cancer, is the third most common cause of mortality and is the most common cause of morbidity in the world. The enzyme methylenetetrahydrofolate reductase (MTHFR) plays a critical role in modulating the levels of plasma homocysteine. Hyperhomocysteinemia is a risk factor for stroke. The polymorphysm in the methylenetetrahydrofolate reductase gene C677T results in reduced enzyme activity. This study was performed to observe the rate of MTHFR C677T genetic polymorphysm and its effect to hyperhomocysteinemia as a risk factor. Material and Methods: In this study, 40 stroke patients and 38 control subjects without any history of stroke were assessed. DNA was extracted from preripheral blood samples of the patients and controls. C677T genotype and allels in the MTHFR gene were identified in Light Cycle (LC) device by Real Time (RT) Polymerase Chain Reaction (PCR) methods. Results: In control and study groups MTHFR C677T (63.15% CC, 34.21% CT, 2.63% TT) (35% CC, 52.5% CT, 12.5% TT) genotypes were analyzed respectively and statistically significant difference was observed. Conclusion: MTHFR C677T polymorphism was a risk factor for in stroke patients. We thought to extend our study by increasing the size and adding the homocysteine measurements for better results.

Özet

Amaç: İnme, kalp hastalığı ve kanserden sonra dünyada en sık görülen üçüncü ölüm nedeni olup morbiditenin ise en sık sebebidir. Metilentetrahidrofolat redüktaz enzimi plazmadaki homosistin düzeylerini ayarlamada önemli bir rol oynar. Hiperhomosistin inme için bir risk faktörüdür. Metilentetrahidrofolat redüktaz gen C677T polimorfizmi enzim aktivitesinde azalmaya neden olur. Bu çalışmada, inme hastalarında metilentetrahidrofolat geni C677T polimofizmi genotip ve allel sıklıklarını belirlemek amaçlanmıştır. Gereç ve Yöntem: Çalışma 40 inme hasta ve 38 sağlıklı kişide yapılmıştır. Tüm araştırma grubu bireylerinin periferik kan örneklerinden DNA ekstraksiyonu yapılarak Light Cycle (LC) cihazında Real Time (RT) Polimeraz Zincir Reaksiyon (PCR) yöntemi uygulanarak MTHFR enzimi kodlayan genin C677T polimorfizminin genotipleri tayin edildi. Bulgular: Kontrol ve çalışma grubunda sırasıyla MTHFR C677T (%63.15 CC, %34.21 CT, %2.63 TT) (%35 CC, %52.5 CT, %12.5 TT) genotipleri açısından analiz edildiğinde aralarında istatistiksel farklılık gözlenmiştir (x2 =4.462 p<0.05). Sonuç: MTHFR C677T gen polimorfizmlerinin inme hastalarında risk faktörü oluşturduğu saptanmıştır. Olgu sayısının artırılıp, homosistin ölçümleri ile birlikte araştırmamızın genişletilmesine karar verdik.

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Cite This Article

GÜLÇİÇEK, F. G., TEKİN, Ş. N., KURAL, A., ALİOĞLU, E. K. (2015). The frequency of metilentetrahidrofolat reductase C6777T gene polymorphysm and mutations in patients with a history of stroke. Bakırköy Tıp Dergisi, Cilt: 11 - Sayı: 3, 99–102. https://ajindex.com/articles/128885

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