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

Abstract

Alzheimer’s Disease (AD) is a multifactorial neurodegenerative disease and there is still no definitive treatment today. Early diagnosis of the disease is important, but there are almost no biomarkers that can be used in early diagnosis. The cerebrospinal fluid used in the diagnosis of the disease is not sufficient and is very difficult to obtain. Therefore, blood biomarkers that are less costly, less invasive, easily accessible, and can be used in long-term studies would be a better alternative. The aim of this study is to determine the relationship between Alzheimer’s Disease and P301L MAPT gene mutation, homocysteine, folate and uric acid. 101 Alzheimer’s patients and 101 healthy individuals were included in this study. Mutation analysis was performed using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method with blood samples taken from the subjects. There was no significant difference between the patient and control groups in terms of homocysteine (p = 0.771), folate (p = 0.366) and uric acid (p = 0.860). When the genotypes were compared between the patient and control groups in terms of MAPT gene mutation (P301L), no statistically significant difference was detected (p = 0.081). There are very few studies in the literature investigating the relationship between Alzheimer’s disease and P301L MAPT gene mutation. Additionally, there is no study investigating the relationship between Alzheimer’s disease and homocysteine, folate, uric acid and P301L MAPT mutation in the Turkish population. We believe that this study has shed light on future studies.