Association between Alzheimer’s disease, MAPT genemutation and some biochemical biomarkers

Abstract

Alzheimer’s Disease (AD) is a multifactorial neurodegenerativedisease and there is still no definitive treatment today. Earlydiagnosis of the disease is important, but there are almost nobiomarkers that can be used in early diagnosis. The cerebro-spinal fluid used in the diagnosis of the disease is not suffi-cient and is very difficult to obtain. Therefore, blood biomarkersthat are less costly, less invasive, easily accessible, and can beused in long-term studies would be a better alternative. Theaim of this study is to determine the relationship betweenAlzheimer’s Disease and P301L MAPT gene mutation, homo-cysteine, folate and uric acid. 101 Alzheimer’s patients and101 healthy individuals were included in this study. Mutationanalysis was performed using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) methodwith blood samples taken from the subjects. There was nosignificant difference between the patient and control groupsin terms of homocysteine (p = 0.771), folate (p = 0.366) and uricacid (p = 0.860). When the genotypes were compared betweenthe patient and control groups in terms of MAPT gene muta-tion (P301L), no statistically significant difference was detected(p = 0.081). There are very few studies in the literature investi-gating the relationship between Alzheimer’s disease and P301LMAPT gene mutation. Additionally, there is no study investigat-ing the relationship between Alzheimer’s disease and homocys-teine, folate, uric acid and P301L MAPT mutation in the Turkishpopulation. We believe that this study has shed light on futurestudies.