Papers by Magdolna Pákáski
Psychiatry Research-neuroimaging, Dec 1, 2015
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Neuroscience Letters, 2018
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Psychiatry Research-neuroimaging, Dec 1, 2014
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European Psychiatry, 2012
ABSTRACT Alzheimer's disease (AD) is a neurodegenerative disorder characterized by extrac... more ABSTRACT Alzheimer's disease (AD) is a neurodegenerative disorder characterized by extracellular accumulations of amyloid -β (Aβ) peptides. Multidrog resistance 1 (MDR1)/ABCB1 gene encodes P-glycoprotein (P-gp), which play a role in Aβ elimination from the brain. Cerebral amyloid deposition in patients with AD was inversely correlated with brain capillary P-gp expression. Our study was undertaken to confirm the hypothesis that the C3435T (rs1045642) and the G2677T/A (rs2032582) polymorphisms of the MDR1 gene represent risk factors for AD. A total of 242 patients with AD and 226 elderly, cognitively intact, healthy control subjects were recruited. The clinical diagnosis of AD fulfilled the criteria for NINCDS-ADRDA. The genetic analyses were performed by PCR-RFLP. The C/C and C/T genotypes of the C3435T polymorphism was significantly over-represented in AD as compared to HC group (p < 0.001). The allele distribution of the C3435T polymorphism also showed statistically significant difference between cases and controls with higher C allele frequency in the AD group (p < 0.001). The C allele carriers had a significantly increased risk for AD (OR = 3.53, 95%CI:2.19–5.68, p = 0.005) considering the T/T genotype as reference category (OR = 1). The genotype and allele frequencies of the G2677T/A polymorphism did not differ significantly between the AD and HC groups (p = 0.801 for genotypes, and p = 0.754 for alleles). Our findings indicate that the C allele of the C3435T polymorphism may confer risk for developing AD. We failed to detect an association between G2677T/A polymorphism and AD. This work was supported by grants from the Hungarian Ministry of Health 052-07/2009 and TÁMOP-4.2.1/B-09/1/KONV-2010-0005.
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European Psychiatry, Mar 1, 2015
Reelin, an extracellular signaling glycoprotein encoded by the RELN gene, plays a significant rol... more Reelin, an extracellular signaling glycoprotein encoded by the RELN gene, plays a significant role in neuronal development and adult synaptic plasticity. Alterations in the expression of Reelin and in Reelin-mediated signaling have been implicated in the pathology of Alzheimer's disease (AD). We examined the possible role of the RELN rs4298437 and rs6943822 polymorphisms and their synergistic effect with the Apolipoprotein E (APOE) ɛ4 allele in the development of AD. A total of 365 patients with a clinical diagnosis of probable AD according to NINCDS/ADRDA criteria and 276 elderly, cognitively healthy control individuals were involved in the study. The genetic analyses were performed by PCR-RFLP and TaqMan real-time PCR methods. The investigated genotype distributions were in Hardy-Weinberg Equilibrium. No significant difference in mean age or in the distribution of genders between cases and controls was found. Comparison of rs4298437 genotype frequencies between AD and control groups showed no statistically significant difference (p=0.890). The frequencies of the different rs6943822 genotypes were similar in the two investigated groups (p=0.914). The interaction between the RELN and APOE polymorphisms did not contribute significantly to the logistic regression model (p>0.1). Our study suggests no individual influence of the investigated RELN polymorphisms on the risk for developing AD. Given the involvement of Reelin in the APOE signaling pathway, a possible interaction of RELN and APOE ɛ2/ɛ3/ɛ4 polymorphisms in the prediction of AD was assessed, but no epistasis was found. This project was supported by the János Bolyai Research Scholarship of the Hungarian Academy of Sciences.
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Neuroscience Letters, Sep 1, 2012
A remarkable candidate gene for late-onset Alzheimer&... more A remarkable candidate gene for late-onset Alzheimer's disease (AD) is 24-dehydrocholesterol reductase (DHCR24) gene that encodes seladin-1 (selective AD indicator), an enzyme that is involved in the cholesterol biosynthetic pathway, exerts neuroprotective and anti-apoptotic effects, and found to be down regulated in AD vulnerable brain regions. The genetic association between DHCR24 rs600491 polymorphism and the risk for AD was investigated in 295 Hungarian late-onset AD patients and 204 ethnically matched, elderly, cognitively healthy control individuals. The DHCR24 rs600491 genotype distributions did not differ significantly between the AD and control groups. Stratification according to gender, however, revealed a statistically significant association between T/T genotype and AD risk in men, in contrast with the results in women. Our findings indicate a gender dependent effect of DHCR24 rs600491 polymorphism on the susceptibility to AD.
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Brain Research, Aug 1, 2001
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Neurobiology, 2001
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Neurochemistry International, Jul 1, 1992
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Brain Research, Jun 1, 1998
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Current drug targets, Jun 1, 2003
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A neurodegenerativ Alzheimer-kor (AK) a demencia leggyakoribb formaja, melynek kialakulasaban gen... more A neurodegenerativ Alzheimer-kor (AK) a demencia leggyakoribb formaja, melynek kialakulasaban genetikai, epigenetikai es kornyezeti tenyezők is fontos szerepet jatszanak. A reelin gen (RELN) altal kodolt feherje egy extracellularis glikoprotein, mely szerepet jatszik az embrionalis fejlődes soran a neuronalis migracioban es felnőttkorban a szinaptikus funkciok fenntartasaban. AK-ban szenvedő betegek cortexeben magasabb reelin szintet mertek az egeszseges kontrollokhoz viszonyitva, tovabba transzgenikus AK eger modellben a reelin feherje szintje korrelalt az amyloid plakkok mennyisegevel. Vizsgaltuk a hipotezist, hogy a RELN gen rs2299356 polimorfizmusa onmagaban, illetve a demenciakban rizikotenyezőnek tekintett apolipoprotein E (APOE) ɛ4-es allellal interakcioban osszefuggesbe hozhato a kesői kezdetű AK kialakulasara valo fogekonysaggal. A vizsgalatba 398 AK-ban szenvedő beteget es 265 egeszseges kontroll (K) szemelyt vontunk be. Az AK diagnozis felallitasaban a NINCDS-ADRDA kriter...
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Neurobiology
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Neurobiology (Budapest, Hungary), 1998
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Neurobiology (Budapest, Hungary), 1998
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Neurobiology (Budapest, Hungary), 1997
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Neurochemistry International, 2002
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Neurochemistry International, 2002
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Neurochemistry International, 2001
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Journal of Neuroscience Methods, 1985
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Papers by Magdolna Pákáski