Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism

Bernardi, Livia; Tomaino, Carmine; Anfossi, Maria; Gallo, Maura; Geracitano, Silvana; Puccio, Gianfranco; Colao, Rosanna; Frangipane, Francesca; Mirabelli, Maria; Smirne, Nicoletta; Maletta, Raffaele; Bruni, Amalia C.

doi:10.1007/s00415-008-0764-3

Cited by 17 publications

(6 citation statements)

References 11 publications

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“…The p.H169N mutation of PSEN2 reported by Ma et al has also been detected in both AD and FTD patients, in support of the previous finding by Shi et al [58,63]. A known PSEN2 mutation (p.V139M) which was first reported in an Italian LOAD patient, was observed in a Chinese patient with early-onset disease phenotypes [39,73]. Gao et al found two novel variants (p.V150M and p.R163C) in PSEN2 in Chinese familial AD patients.…”

Section: Psen2supporting

confidence: 79%

The Genetics of Alzheimer’s Disease in the Chinese Population

Gan

Zhang

Lee

2020

IJMS

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Alzheimer’s disease (AD) is a neurodegenerative disease characterized by progressive cognitive dysfunction and behavioral impairment. In China, the number of AD patients is growing rapidly, which poses a considerable burden on society and families. In recent years, through the advancement of genome-wide association studies, second-generation gene sequencing technology, and their application in AD genetic research, more genetic loci associated with the risk for AD have been discovered, including KCNJ15, TREM2, and GCH1, which provides new ideas for the etiology and treatment of AD. This review summarizes three early-onset AD causative genes (APP, PSEN1, and PSEN2) and some late-onset AD susceptibility genes and their mutation sites newly discovered in China, and briefly introduces the potential mechanisms of these genetic susceptibilities in the pathogenesis of AD, which would help in understanding the genetic mechanisms underlying this devastating disease.

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Section: Psen2supporting

confidence: 79%

The Genetics of Alzheimer’s Disease in the Chinese Population

Gan

Zhang

Lee

2020

IJMS

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“…Rare early-onset familial forms of AD with an inheritable autosomal dominant mutation in either amyloid precursor protein (APP), presenilin-1 (PSEN1) or presenilin-2 (PSEN2) genes, account for <1% of AD cases. An unknown proportion of late-onset familial AD harbors “less aggressive” familial autosomal dominant mutations [3, 4]. The vast majority of AD cases are sporadic, with complex genetic, environmental and epigenetic risk factors [3, 5-7].…”

Section: Introductionmentioning

confidence: 99%

MicroRNA: Implications for Alzheimer Disease and other Human CNS Disorders

Maës¹,

Chertkow²,

Wang³

et al. 2009

188

130

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Understanding complex diseases such as sporadic Alzheimer disease (AD) has been a major challenge. Unlike the familial forms of AD, the genetic and environmental risks factors identified for sporadic AD are extensive. MicroRNAs are one of the major noncoding RNAs that function as negative regulators to silence or suppress gene expression via translational inhibition or message degradation. Their discovery has evoked great excitement in biomedical research for their promise as potential disease biomarkers and therapeutic targets. Key microRNAs have been identified as essential for a variety of cellular events including cell lineage determination, proliferation, apoptosis, DNA repair, and cytoskeletal organization; most, if not all, acting to fine-tune gene expression at the post-transcriptional level in a host of cellular signaling networks. Dysfunctional microRNA-mediated regulation has been implicated in the pathogenesis of many disease states. Here, the current understanding of the role of miRNAs in the central nervous system is reviewed with emphasis on their impact on the etiopathogenesis of sporadic AD.

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“…A PS2 Ser130Leu [6] and a novel PS2 Val139Met [7] mutations have been found in two late onset AD cases with onset at 83 and 76.…”

Section: Resultsmentioning

confidence: 99%