Genomic analysis of APP, PSEN1 and MAPT genes involved in the pathogenesis of Alzheimer's disease

Neurodegenerative diseases, such as Alzheimer's disease or other forms of dementia, represent a major challenge for global public health, and understanding the genetic mechanisms involved is essential for the development of diagnostic and treatment strategies. This work aims to study three key genes involved in the pathogenesis of neurodegeneration: APP (Amyloid Precursor Protein), PSEN1 (Presenilin 1) and MAPT (Microtubule Associated Protein Tau). The aim of the research is to analyze the classification of these genes, pathogenic genetic variations and frequent polymorphisms, as well as their impact on physiological and pathological processes. The methodology is based on a comparative analysis of data from the specialized literature and from genetic and expression databases, including GTEx, Human Protein Atlas, STRING and GeneMANIA platforms, as well as integrations from genome-wide association studies (GWAS). Specific types of pathogenic variations in each gene, correlated with distinct clinical phenotypes, were identified, and polymorphisms with a potential protective or susceptibility role were evaluated. The results highlight the differential distribution of gene expression in tissues relevant for neuronal function, their involvement in complex molecular networks and functional interactions, as well as possible mechanisms by which genetic variations may influence disease risk. The analysis emphasizes the importance of correlating genomic data with clinical phenotype for the identification of molecular markers useful in early diagnosis and personalization of therapeutic interventions. The work contributes to the understanding of the role of APP, PSEN1 and MAPT genes in neurodegeneration, providing an integrated synthesis of molecular and clinical data that can support translational research and medical practice.