Alzheimer Hastalığının Vitamin B6, B12, Folat ve Homosistein Düzeyleri ile Metilentetrahidrofolat Redüktaz (MTHFR) Gen Polimorfizmi ile İlişkisi

Year 2023, Volume: 16 Issue: 3, 254 - 261, 30.12.2023

Ulaş Değirmenci Serhan Sevim Lülüfer Tamer

https://doi.org/10.52976/vansaglik.1296233

Abstract

Amaç: Alzheimer hastalığı nörodejeneratif bir hastalıktır ve yaşlı popülasyonda görülen demansın en sık çeşididir (%50-60). Hastalık beynin belirli bölgelerinde amiloid birikimi ile karakterizedir. Bu birikimler amiloid plak ve nörofibriller yumakları içermektedir. Alzheimer’lı beynin makroskopik özellikleri hafıza ve konuşma ile ilgili olan bölgeleri etkileyen sulkusların genişlemesi, kortikal atrofi ve ventriküler dilatasyondur. Hiperhomosisteineminin vasküler değişiklikleri indükleme vasıtasıyla Alzheimer hastalığı ile bağlantılı olabileceği düşünülmektedir. Homosistein remetilasyon yoluyla metiyonine çevrilmektedir. Bu yolakta metilentetrahidrofolat redüktaz enzimi metilentetrahidrofolatın metiltetrahidrofolata dönüşüm reaksiyonunu katalizlemektedir. Homosisteinin remetilasyonunda folat, B6 ve B12gibi vitaminler de görev almaktadır. Bu çalışmada Alzheimer hastalığı ile homosistein, folat,vitamin B6, B12 düzeyleri ve metilentetrahidrofolat redüktaz genotiplerinin ilişkisini araştırmayı amaçladık.
Yöntem: Kan örnekleri 56 Alzheimer hastasından ve 82 sağlıklı bireyden toplandı. Folat ve B12 vitamini düzeyleri Modular E170 (Roche Diagnostics GmbH Mannheim, Germany) biyokimya otoanalizöründe, homosistein ve B6 vitamini düzeyleri ise yüksek basınçlı sıvı kromatografisi yöntemiyle Agilent 1100 Series (Germany) cihazında ölçüldü. Metilentetrahidrofolat redüktaz gen polimorfizmleri real time PCR yöntemiyle LightCycler (Roche Diagnostics GmbH Mannheim, Germany) cihazında tespit edildi.
Bulgular: Vitamin B12 düzeyleri hasta grubunda daha yüksek, vitamin B6 ve folat düzeyleri hasta grubunda daha düşük bulunmasına rağmen farklılıklar istatistiksel olarak anlamlı bulunmadı (p>0.05). Homosistein düzeyleri hasta grubunda istatistiksel olarak anlamlı derecede yüksek bulundu (p=0.016).Metilentetrahidrofolat redüktaz C677T polimorfizminin 677CC, 677CT ve 677TT genotipleri ve A1298C polimorfizminin 1298AA, 1298AC ve 1298CC genotipleri bakımından gruplar arasında farklılık olmadığı tespit edildi.
Sonuç: Homosisteinin Alzheimer hastalığı için risk faktörü olduğu ve homosistein metabolizmasında görev alan diğer biyomoleküller ve enzimleri de kapsayan çalışmaların Alzheimer hastalığı ve homosistein ilişkisini ortaya çıkarabileceği düşünülmektedir.

Keywords

Alzheimer hastalığı, Homosistein, Metilentetrahidrofolat redüktaz, Gen polimorfizmi

Supporting Institution

Mersin Üniversitesi Bilimsel Araştırma Projeleri Birimi

Project Number

SBE-BK(UD)-2003-2YL

Thanks

SBE-BK(UD)-2003-2YL proje numaralı bu çalışma Mersin Üniversitesi Bilimsel Araştırma Projeleri Birimince desteklenmiştir.

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