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New Insights into the Molecular Bases of Familial Alzheimer’s Disease

1
CEINGE-Biotecnologie Avanzate scarl, via G. Salvatore 486, 80145 Naples, Italy
2
Department of Human Sciences and Quality of Life Promotion, San Raffaele Open University, via di val Cannuta 247, 00166 Rome, Italy
3
Department of Molecular Medicine and Medical Biotechnology, Federico II University, via S. Pansini 5, 80131 Naples, Italy
*
Authors to whom correspondence should be addressed.
J. Pers. Med. 2020, 10(2), 26; https://doi.org/10.3390/jpm10020026
Received: 25 March 2020 / Revised: 14 April 2020 / Accepted: 17 April 2020 / Published: 19 April 2020
(This article belongs to the Special Issue Novel Biomarkers in Alzheimer’s Disease)
Like several neurodegenerative disorders, such as Prion and Parkinson diseases, Alzheimer’s disease (AD) is characterized by spreading mechanism of aggregated proteins in the brain in a typical “prion-like” manner. Recent genetic studies have identified in four genes associated with inherited AD (amyloid precursor protein-APP, Presenilin-1, Presenilin-2 and Apolipoprotein E), rare mutations which cause dysregulation of APP processing and alterations of folding of the derived amyloid beta peptide (Aβ). Accumulation and aggregation of Aβ in the brain can trigger a series of intracellular events, including hyperphosphorylation of tau protein, leading to the pathological features of AD. However, mutations in these four genes account for a small of the total genetic risk for familial AD (FAD). Genome-wide association studies have recently led to the identification of additional AD candidate genes. Here, we review an update of well-established, highly penetrant FAD-causing genes with correlation to the protein misfolding pathway, and novel emerging candidate FAD genes, as well as inherited risk factors. Knowledge of these genes and of their correlated biochemical cascade will provide several potential targets for treatment of AD and aging-related disorders. View Full-Text
Keywords: Alzheimer’s disease; APP mutations; APOE alleles; PSEN1; PSEN2; germline mutations; late onset AD; early onset AD; familial AD; genetics of AD Alzheimer’s disease; APP mutations; APOE alleles; PSEN1; PSEN2; germline mutations; late onset AD; early onset AD; familial AD; genetics of AD
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D’Argenio, V.; Sarnataro, D. New Insights into the Molecular Bases of Familial Alzheimer’s Disease. J. Pers. Med. 2020, 10, 26.

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