Reelin Signaling Pathway Genotypes and Alzheimer Disease in a Spanish Population

Bufill, Enric; Roura-Poch, Pere; Matavera, Isabel Sala; Antón, Sofía; Lleó, Alberto; Belen, S.; Tomás-Abadal, L.; Puig, Teresa; Abós, Josep; Bernades, Santiago; Clarimón, Jordi; Blesa, Rafael

doi:10.1097/wad.0000000000000002

Cited by 31 publications

(25 citation statements)

References 7 publications

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“…The RELN genotype distribution observed in our control sample is similar to earlier reports on other Caucasian control populations (Bufill et al, 2013;Seripa et al, 2008;Kramer et al, 2011). In a Spanish case-control study rs2299356 polymorphism was found to be associated with AD and rs528528 with mild cognitive impairment (Bufill et al, 2013).…”

Section: Discussionsupporting

confidence: 74%

“…Despite its expected important role in neurodegeneration, according to our knowledge so far only three studies have examined genetic associations of RELN with AD, and one with AD-related neuropathology (Seripa et al, 2008;Antoniades et al, 2011;Kramer et al, 2011;Bufill et al, 2013). This study aimed to replicate the previous reports on associations between RELN single nucleotide polymorphisms (SNP) and AD in an independent sample.…”

Section: Introductionsupporting

confidence: 77%

“…In a Spanish case-control study rs2299356 polymorphism was found to be associated with AD and rs528528 with mild cognitive impairment (Bufill et al, 2013). Our study did not confirm these results in the Hungarian population.…”

Section: Discussioncontrasting

confidence: 56%

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Genetic analysis of the RELN gene: Gender specific association with Alzheimer’s disease

Fehér

Juhász

Pákáski

et al. 2015

Psychiatry Research

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a b s t r a c tAssociation between genetic variants of the reelin (RELN) gene and the risk for developing Alzheimer's disease (AD) was examined in a sample of 432 patients and 308 controls. Single marker and haplotype analyses revealed that the strongly linked rs528528 and rs607755 polymorphisms are associated with AD risk in a gender specific manner. Among men, but not in women the rs528528 T/T and rs607755 A/A genotypes were significantly associated with the susceptibility to AD.

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Section: Discussionsupporting

confidence: 74%

Section: Introductionsupporting

confidence: 77%

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Genetic analysis of the RELN gene: Gender specific association with Alzheimer’s disease

Fehér

Juhász

Pákáski

et al. 2015

Psychiatry Research

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“…Seven SNPs typed from the CAMK2A gene were found to be significantly associated with alcohol dependence [113]. Notably, the rs10463293 SNP has previously been associated with working memory performance [122], while SNP rs3756577 has been suggested 21 before to influence the risk for Alzheimer's disease [123]. A set of 13 CAMK2A SNPs were found to predict the number of alcohol drinking days per month in a sample of adults living in the US [124].…”

Section: Discussionmentioning

confidence: 99%

CaM Kinases: From Memories to Addiction

Müller

Quednow

Lourdusamy

et al. 2016

Trends in Pharmacological Sciences

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Drug addiction is a major psychiatric disorder with a neurobiological base that is still insufficiently understood. Initially, non-addicted, controlled drug consumption and drug instrumentalization are established. They comprise highly systematic behaviours acquired by learning and the establishment of drug memories. Ca 2+ /calmodulin-dependent protein kinases (CaMKs) are important Ca 2+ -sensors translating glutamatergic activation into synaptic plasticity during learning and memory formation. Here we review the role of CaMKs in the establishment of drugrelated behaviours in animal models and in humans. Converging evidence shows now that CaMKs are a crucial mechanism of how addictive drugs induce synaptic plasticity and establish various types of drug memories. Thereby, CaMKs are not only molecular relays for glutamatergic activity; they also directly control dopaminergic and serotonergic activity in the mesolimbic reward system. They can now be considered as major molecular pathways translating normal memory formation into establishment of drug memories and possibly transition to drug addiction. Keywords: Ca 2+/calmodulin-dependent protein kinase, drug dependence, addiction, psychostimulants, alcohol, opioids 3 Drug Use and AddictionDrug addiction is a major psychiatric disorder for which only limited therapies are currently available [1,2]. A striking criterion for drug abuse and addiction is that it severely threatens one's own and others well-being and health. As such, there is a persistent need to treat drug addiction effectively, and ideally reverse the behavioural repertoire of an affected individual back to normal.An important feature of drug addiction is that it develops from a behavioural repertoire, which is considered to be normal in many societies of the world: the controlled consumption and instrumentalization of psychoactive drugs [3,4].Establishing and maintaining controlled drug consumption is based on systematic learning and memory retrieval of distinct behaviours, related to drug seeking, preparation, and consumption in a specific context [5,6]. Thereby, information is encoded within different behavioural systems, which can be summarized as "drug memories" [5,[7][8][9] (Box 1). It is believed that an intensification of these memories together with a loss of impulse control (compulsivity) is responsible for the transition from controlled drug use to addiction [10][11][12]. Understanding how these drug memories are established and how they may take control over a normal behavioural repertoire should, therefore, allow to improve the prevention of addiction and to develop new and more effective treatments [13]. From Memories to Drug MemoriesIt was suggested that anatomical pathways, micro-morphological adaptations, as well as molecular mechanisms in the brain, overlap between normal learning and memory and drug memories [14][15][16]. A crucial player for memory formation in the brain is the glutamatergic system and its plasticity based on experience [17]. Addiction research considered glu...

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“…In addition to cyclin B, the expression of PLKs ( Drosophila polo homologues) is upregulated in susceptible hippocampal and cortical neurons of AD patients [44, 45]. A significant association between the genotypes of PLK2 (rs15009 and rs702723) was found in AD [46]. Mechanism study shows PLK1 is elevated during the cell-cycle re-entry of neuronal cells in vitro [47].…”

Section: Discussionmentioning

confidence: 99%

Quercetin ameliorates Aβ toxicity inDrosophilaAD model by modulating cell cycle-related protein expression

Kong

et al. 2016

Oncotarget

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Alzheimer's disease (AD) is a prevalent neurodegenerative disorder characterized by β amyloid (Aβ) deposition and neurofibril tangles. It has been reported that a bioflavonoid, quercetin, could ameliorate AD phenotypes in C. elegans and mice. However, the mechanism underlying the ameliorative effect of quercetin is not fully understood yet. Drosophila models could recapitulate AD-like phenotypes, such as shortened lifespan, impaired locomotive ability as well as defects in learning and memory. So in this study, we investigated the effects of quercetin on AD in Drosophila model and explored the underlying mechanisms. We found quercetin could effectively intervene in AD pathogenesis in vivo. Mechanism study showed quercetin could restore the expression of genes perturbed by Aβ accumulation, such as those involved in cell cycle and DNA replication. Cyclin B, an important cell cycle protein, was chosen to test whether it participated in the AD ameliorative effects of quercetin. We found that cyclin B RNAi in the brain could alleviate AD phenotypes. Taken together, the current study suggested that the neuroprotective effects of quercetin were mediated at least partially by targeting cell cycle-related proteins.

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Reelin Signaling Pathway Genotypes and Alzheimer Disease in a Spanish Population

Abstract: Our data suggest a possible relation between certain reelin signaling pathway genotypes and cognitive impairment related to AD.

Cited by 31 publications

References 7 publications

Genetic analysis of the RELN gene: Gender specific association with Alzheimer’s disease

Genetic analysis of the RELN gene: Gender specific association with Alzheimer’s disease

CaM Kinases: From Memories to Addiction

Quercetin ameliorates Aβ toxicity inDrosophilaAD model by modulating cell cycle-related protein expression

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