ALZHEİMER HASTALARINDA SERUM HOMOSİSTEİN VE PARAOKSONAZ SEVİYELERİ İLE MTHFR VE PON 1 GEN POLİMORFİZMİNİN KLİNİK İLE KORELASYONU

Öz

Amaç: Bu çalışmanın amacı Alzheimer hastalarında, serum homosistein (Hcy) yüksekliği ve paraoksonaz düşüklüğü ile metilentetrahidrofolat redüktaz (MTHFR) ve paraoksonaz 1 (PON1) gen polimorfizmlerinin tespit edilmesi, bu hastalarda klinik ile korelasyonunun değerlendirilmesidir.

Materyal ve metod: Çalışmaya klinik olarak Alzheimer hastalığı (AH) tanısı DSM-IV kriterlerine göre konulan 51 hasta ve AH olmayan 52 kişi olmak üzere toplam 103 olgu alındı.  Hasta ve kontrol grubunda, Hcy düzeyleri ve paraoksonaz aktiviteleri, MTHFR C677T – A1298C ve PON1 L55M - Q192R gen polimorfizmleri incelendi.

Bulgular: Çalışmamızda hastaların yaş ortalaması 73.67±7.91 yıl olarak bulundu. Hasta grupta Hcy düzeyi anlamlı olarak yüksek iken (p:0,024), paraoksonaz aktivitesi hasta grupta düşük olarak bulundu (p:0,047). MTHFR C677T ve A1298C polimorfizmi olanlarda Hcy seviyeleri yüksekti ancak gruplar arasında anlamlı bir fark yoktu (p>0,05). PON1 L55M polimorfizminde PON düzeyleri düşüktü (p<0,009). Q192R polimorfizmi olanlarda PON düzeyi heterezigot grupta daha belirgin olmak üzere yüksekti (p:0,024).

Sonuç: Alzheimer hastalığında Hcy düzeylerinde yükseklik ve PON aktivitesinde düşüklük olduğu görüldü. MTHFR C677T ve A1298C polimorfizmi AH ile ilişkili bulunmadı, ancak Hcy düzeylerini arttırdığı gözlendi. PON 1 L55M polimorfizmi AH da risk faktörü, Q192R polimorfizminin ise koruyucu faktör olabileceği sonucuna varıldı.

Anahtar Kelimeler

• Alzheimer hastalığı,homosistein,metilentetrahidrofolat redüktaz,paraoksonaz gen polimorfizmi

The Association Between Blood Homocystein-Paraoxonase Levels and the Polymorphisms of Methylenetetrahydrofolate Reductase and Paraoxonase 1 Genes in Alzheimer Disease Patients

Öz

Background: The aim of this study is to detect serum homocysteine increase (Hcy) and paraoxonase decrease together with methylenetetrahydrofolate reductase (MTHFR) and paraoxonase 1 (PON1) gene polymorphisms in Alzheimer's patients and to evaluate the correlation with clinic in these patients.

Material and Methods: In our study; total 103 individuals were included and 51 of them had Alzheimer's disease (AD) diagnosis clinically according to DSM-IV criteria and 52 of them did not have AD. In patient and control group; Hcy levels and paraoxonase activity, MTHFR C677T – A1298C and PON1 L55M - Q192R gene polymorphisms were investigated.

Results: Average age of the patients in our study was found as 73.67±7.91 years. In patient group; Hcy level was significantly high (p:0,024) and paraoxonase activity was found low in patient group (p:0,047). In patients with MTHFR C677T and A1298C polymorphism, Hcy levels were high but there was no significant difference between groups (p>0,05). In PON1 L55M polymorphism PON levels were low (p<0,009). In patients with Q192R polymorphism PON levels were significantly high especially in heterozygote group (p:0,024).

Conclusion: It was seen that Hcy levels were high and PON activity was low in Alzheimer's disease. MTHFR C677T and A1298C polymorphism could not be associated with AD but it was observed that the polymorphism could increase Hcy levels. As a result; PON 1 L55M polymorphism was thought to be a risk factor in AD and on the other hand Q192R polymorphism was thought to be a protective factor.

Anahtar Kelimeler

• Alzheimer's disease,homocysteine,methylenetetrahydrofolate reductase,paraoxonase gene polymorphism

Kaynakça

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