IMR Press / FBE / Volume 5 / Issue 1 / DOI: 10.2741/E605

Frontiers in Bioscience-Elite (FBE) is published by IMR Press from Volume 13 Issue 2 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Open Access Review

Genetics of familial and sporadic Alzheimer’s disease

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1 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

*Author to whom correspondence should be addressed.

Academic Editor: Agata Copani

Front. Biosci. (Elite Ed) 2013, 5(1), 167–177; https://doi.org/10.2741/E605
Published: 1 January 2013
(This article belongs to the Special Issue Alzheimer's disease)
Abstract

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.

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