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).