Open Access

Genetics of familial and sporadic Alzheimer’s disease

Irene Piaceri1,Benedetta Nacmias1,*,Sandro Sorbi1
Department of Neurological and Psychiatric Sciences, University of Florence and Centro di Ricerca, Trasferimento e Alta Formazione DENOTHE, University of Florence, Largo Brambilla 3, 50134 Firenze, Italy
DOI: 10.2741/E605 Volume 5 Issue 1, pp.167-177
Published: 01 January 2013
(This article belongs to the Special Issue Alzheimer's disease)
*Corresponding Author(s):  
Benedetta Nacmias

Alzheimer's disease (AD) is an age-related progressive neurodegenerative disorder. A majority of cases manifest as a late onset sporadic form but genetically the disease is divided into familial cases and sporadic cases. The familial form is due to mutations in three major genes [amyloid precursor protein (APP) gene, presenilin1 (PSEN1) gene and presenilin 2 (PSEN2) gene]. In contrast, many genetic and environmental factors may contribute to determining the sporadic AD form. Despite many years of research and great progress in the knowledge of the molecular pathogenesis of AD, a full understanding of the etiology of the sporadic form is still not yet in reach. Genome-wide association studies (GWASs) revealed the genetic complexity of the disease and recent studies suggested that epigenetic mechanisms may play an essential role in disease development. This review provides an overview of all the milestones in AD genetic research, as well as the new and promising approach, in order to better understand the genetic profile for predicting the risk of AD.

Key words

Alzheimer’s disease, Genes Mutation, Single Nucleotide Polymorphisms, Epigenetics, GWAS, Review

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Irene Piaceri, Benedetta Nacmias, Sandro Sorbi. Genetics of familial and sporadic Alzheimer’s disease. Frontiers in Bioscience-Elite. 2013. 5(1); 167-177.