Mutation in microtubule-associated protein tau MAPT coding gene and its correlation with Alzheimer's disease

Abstract

Alzheimer's disease (AD) is a progressive irreversible neuronal dysfunction characterized by progressive memory loss along with neuropsychiatric symptoms and a decline in daily activities. Disturbances in microtubule-associated protein tau (MAPT) gene expression result in disruption of the neuronal cytoskeleton and formation of neurofibrillary tangles. The study aims are to highlight the correlation between MAPT gene's exons mutations and AD. Beside the possibility of utilizing serum's tau protein concentration as an indicator for AD due to the accumulation of intracellular neurofibrillary filaments of highly phosphorylated Tau in AD patient's brain. DNA had been extracted from participant's blood that divided into three groups 30 participants in each, AD patients, Positive family history and healthy or control groups. The results of this research showed that serum's Tau protein concentration in AD patient group was significantly higher than healthy control and positive family history group and according to this result serum's tau concentration could be utilized as a good indicator for AD .Beside mutation in each 1,9 and 13 exons had been identified by PCR product analysis utilizing specific primers for each , Amplification PCR products in exon (1) showed 428bp band in AD patients group does not exist in 26.66% and in positive family history for AD group does not exist in 23.33%, In exon (9) PCR product of 604bp band in AD patients group does not exist in 53.33%, and in positive family history group does not exist in 43.33%. While amplification PCR product of exon 13 showed 299bps band in all healthy control and positive family history but not in AD patient group instead it band in 263bp had been appeared in 36.66%. These results confirmed the important role of tau protein and its coding gene in the pathology of AD.