Polimorfismo ApoE en la Enfermedad de AlzheimerEstudio genético en Castilla y León

Abstract

Introduction: Alzheimer’s disease, a progressive neurodegenerative disorder characterized by brain alterations affecting memory capacities, arises from a complex interplay of genetic and environmental factors. ApoE gene, particularly its ApoE4 isoform, stands out as the most prevalent genetic risk factor in this condition. Early diagnosis is crucial for implementing effective interventions and enhancing the quality of life for those affected, thus highlighting the social and health priority of addressing this disease. Objective: The general objective of this doctoral thesis was to estimate the frequencies of ApoE variants both in the population of the «Mensajeros de la Paz» Residences and in those of the Associations of Relatives of Alzheimer’s patients in Castilla y León, a region geographically influenced by diverse genetic contributions. Material and Methods: A randomised, longitudinal, clinical study was carried out in the «Mensajeros de la Paz» Residences and in the Associations of Relatives of Alzheimer’s patients in Castilla y León (Spain) after applying the ethical criteria according to current legislation. Saliva samples were collected for analysis of the ApoE gene by PCR and haplotypes were confirmed by agarose gel electrophoresis. Subsequent statistical analysis was performed with IBM SPSS version 26.0 statistical software. Results: In the population diagnosed with Alzheimer’s disease in Castilla y León, a high prevalence of the ApoE3 isoform was observed (74%), followed by ApoE4 (22%) and later ApoE2 (3%). The ε4/ε4 genotype was found only in individuals with a diagnosis of Alzheimer’s disease, while ε2/ε2 did not present frequency in this population. Also,the level of total cholesterol and LDL-cholesterol is different among individual diagnosed with Alzheimer’s disease according to the genotype the carry. Conclusions: The ApoE4 gene is a prevalent genetic risk factor in Alzheimer’s disease, which can serve as an objective tool for early diagnosis in the disease and to analyse other health parameters to improve the quality of life of affected individuals, their relatives and caregivers.