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Article ; Online: Cholesterol dysregulation in peripheral blood mononuclear cells of Alzheimer's disease.

Martín-Montes, A / Recuero, M / Sastre, I / Vilella, E / Rosich-Estragó, M / Atienza, M / Cantero, J L / Frank-García, A / Bullido, M J

Journal of neuroimmunology

2022 Volume 373, Page(s) 577996

Abstract: Cholesterol and the immune system are involved in Alzheimer's Disease (AD). To investigate the relations among them, we compared the cholesterol content in peripheral blood mononuclear cells (PBMC) of cognitively healthy controls and patients with mild ... ...

Abstract	Cholesterol and the immune system are involved in Alzheimer's Disease (AD). To investigate the relations among them, we compared the cholesterol content in peripheral blood mononuclear cells (PBMC) of cognitively healthy controls and patients with mild cognitive impairment (MCI) and AD in two independent samples. Free cholesterol content of PBMC was lower in MCI and AD patients, and was modulated by APOE genotype. A decrease of CD8+ and an increase of CD16+ was also found in AD patients. These results suggest that cholesterol levels in PBMCs may represent an early signature of the disease and support the involvement of immune system in AD.
MeSH term(s)	Humans ; Alzheimer Disease/genetics ; Leukocytes, Mononuclear ; Cognitive Dysfunction ; Cholesterol ; Biomarkers
Chemical Substances	Cholesterol (97C5T2UQ7J) ; Biomarkers
Language	English
Publishing date	2022-10-28
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	8335-5
ISSN	1872-8421 ; 0165-5728
ISSN (online)	1872-8421
ISSN	0165-5728
DOI	10.1016/j.jneuroim.2022.577996
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Article: Apolipoprotein E gene promoter polymorphisms in Alzheimer's disease.

Bullido, M J / Valdivieso, F

Microscopy research and technique

2000 Volume 50, Issue 4, Page(s) 261–267

Abstract: Alzheimer's disease, the most frequent form of senile dementia, presents in the vast majority of cases as a multifactorial trait, where a series of genetic and environmental risk factors converge. The increasing body of data, both epidemiological and ... ...

Abstract	Alzheimer's disease, the most frequent form of senile dementia, presents in the vast majority of cases as a multifactorial trait, where a series of genetic and environmental risk factors converge. The increasing body of data, both epidemiological and functional, is strengthening the evidence that apolipoprotein E (APOE, gene; apoE, protein) is a true susceptibility factor for the onset of the common form of Alzheimer's disease. The E4 isoform of apoE remains to date as the main genetic risk factor for the disease, although the mechanisms responsible for this association are not well understood. It is also clear that apoE4 is not necessary or sufficient to cause the disease, indicating that other risk and protecting factors exist. ApoE is upregulated in response to nervous system injury, suggesting that it could have a neuroprotective role; on the other hand, there is evidence indicating that apoE is neurotoxic when present at high levels. Thus, apoE levels seem to be relevant for the functionality of the protein. The APOE proximal promoter hosts numerous regulatory elements, raising the possibility that polymorphisms in this region could produce variation in apoE levels by altering APOE transcriptional activity, which could finally result in AD susceptibility. We will review here the current evidence on the relationship between APOE proximal promoter polymorphisms, APOE gene transcriptional activity and apoE protein levels, and risk for AD.
MeSH term(s)	Alzheimer Disease/genetics ; Apolipoprotein E4 ; Apolipoproteins E/genetics ; Chromosomes, Human, Pair 19 ; Genes, Regulator ; Humans ; Polymorphism, Genetic ; Promoter Regions, Genetic
Chemical Substances	Apolipoprotein E4 ; Apolipoproteins E
Language	English
Publishing date	2000-08-15
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1099714-3
ISSN	1097-0029 ; 1059-910X
ISSN (online)	1097-0029
ISSN	1059-910X
DOI	10.1002/1097-0029(20000815)50:4<261::AID-JEMT2>3.0.CO;2-B
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Zs.A 2251: Show issues

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Article: SNP genotyping with FRET probes. Optimizing the resolution of heterozygotes.

Martínez-García, A / Sastre, I / Tenorio, R / Bullido, M J

Molecular and cellular probes

2004 Volume 18, Issue 4, Page(s) 211–214

Abstract: Analysis of single nucleotide polymorphisms by PCR with fluorescence resonance energy transfer (FRET) probes often can produce a result where the melting peak corresponding to perfectly matched sequence (A allele) has a smaller area than the peak ... ...

Abstract	Analysis of single nucleotide polymorphisms by PCR with fluorescence resonance energy transfer (FRET) probes often can produce a result where the melting peak corresponding to perfectly matched sequence (A allele) has a smaller area than the peak corresponding to the allele with a mismatch (B allele). This imbalance can make it difficult to distinguish heterozygous individuals from BB homozygotes. These results suggested that the higher strength in the binding of the perfect match probe to the A allele could cause the selective amplification of the B allele, possibly by interfering with the elongation of the PCR product. In order to optimize the detection of heterozygotes in allelic discrimination assays with FRET probes, we tested several modifications aimed at minimizing the apparent interference of the probes with the amplification process. We observed, in agreement with our hypothesis, that lowering the probe concentration or adding the probes after the amplification step more accurately resolved heterozygotes.
MeSH term(s)	Alleles ; Fluorescence Resonance Energy Transfer/methods ; Fluorescent Dyes/chemistry ; Genotype ; Heterozygote ; Homozygote ; Humans ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide/genetics ; Tumor Cells, Cultured
Chemical Substances	Fluorescent Dyes
Language	English
Publishing date	2004-08
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	639082-1
ISSN	1096-1194 ; 0890-8508
ISSN (online)	1096-1194
ISSN	0890-8508
DOI	10.1016/j.mcp.2004.03.003
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Zs.A 2230: Show issues

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Article: DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations.

Aldudo, J / Bullido, M J / Valdivieso, F

Human mutation

1999 Volume 14, Issue 5, Page(s) 433–439

Abstract: Many different mutations that cause Alzheimer's disease (AD) have been found in the presenilin-1 gene (PSEN1) and are associated with the most aggressive forms of the disease. With the aim of screening for PSEN1 genetic variations, we developed a method ... ...

Abstract	Many different mutations that cause Alzheimer's disease (AD) have been found in the presenilin-1 gene (PSEN1) and are associated with the most aggressive forms of the disease. With the aim of screening for PSEN1 genetic variations, we developed a method based on denaturing gradient gel electrophoresis (DGGE) that allows the mutational analysis of all the coding exons and the proximal promoter of PSEN1 using only four DGGE gels. The analysis by this methodology of a sample of 58 early-onset AD (EOAD) patients nonselected for family history resulted in finding four genetic variants within the PSEN1 coding region, two of which are novel mutations (M233L and A409T), whereas the other two have been reported previously (L282R and E318G). We also found a novel mutation within the PSEN1 proximal promoter (-280 C-->G) that, interestingly, provokes significant changes in the transcriptional activity of the gene in cell lines of neuronal and astrocytic, but not hepatic origin. These data strongly suggest that the region around -280 of PSEN1 promoter contains a regulatory element that controls its transcription specifically in neural cells.
MeSH term(s)	Adult ; Age of Onset ; Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Base Sequence ; Case-Control Studies ; DNA Mutational Analysis/methods ; DNA Primers/genetics ; Electrophoresis, Polyacrylamide Gel ; Humans ; Membrane Proteins/genetics ; Middle Aged ; Mutation ; Point Mutation ; Presenilin-1 ; Promoter Regions, Genetic ; Transcription, Genetic
Chemical Substances	DNA Primers ; Membrane Proteins ; PSEN1 protein, human ; Presenilin-1
Language	English
Publishing date	1999
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1126646-6
ISSN	1098-1004 ; 1059-7794
ISSN (online)	1098-1004
ISSN	1059-7794
DOI	10.1002/(SICI)1098-1004(199911)14:5<433::AID-HUMU10>3.0.CO;2-K
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Zs.A 3586: Show issues

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Article: Missense mutation E318G of the presenilin-1 gene appears to be a nonpathogenic polymorphism.

Aldudo, J / Bullido, M J / Frank, A / Valdivieso, F

Annals of neurology

1998 Volume 44, Issue 6, Page(s) 985–986

MeSH term(s)	Adult ; Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Humans ; Membrane Proteins/genetics ; Middle Aged ; Mutation, Missense/genetics ; Polymorphism, Genetic/physiology ; Presenilin-1
Chemical Substances	Membrane Proteins ; PSEN1 protein, human ; Presenilin-1
Language	English
Publishing date	1998-12
Publishing country	United States
Document type	Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	80362-5
ISSN	1531-8249 ; 0364-5134
ISSN (online)	1531-8249
ISSN	0364-5134
DOI	10.1002/ana.410440624
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Zs.A 1370: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 478: Show issues

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Article: APOE genotype in cerebrovascular disease and vascular dementia.

Frank, A / Díez-Tejedor, E / Bullido, M J / Valdivieso, F / Barreiro, P

Journal of the neurological sciences

2002 Volume 203-204, Page(s) 173–176

Abstract: Background: The fact that the allele epsilon 4 of the Apolipoprotein E (APOE) gene could act like a risk factor not only in late-onset familial and sporadic Alzheimer's disease (AD) but also in cerebrovascular disease (CVD) and vascular dementia (VaD) ... ...

Abstract	Background: The fact that the allele epsilon 4 of the Apolipoprotein E (APOE) gene could act like a risk factor not only in late-onset familial and sporadic Alzheimer's disease (AD) but also in cerebrovascular disease (CVD) and vascular dementia (VaD) is still controversial. Methods: In order to study if epsilon 4 allele is overrepresented not only in AD but also in CVD and VaD, APOE genotyping was undertaken in a series of 247 patients: 26 cases with VaD, 41 cases with CVD but without cognitive impairment (CVD-C), 83 cases with AD and 97 aged-matched "healthy controls" (HC). Results: Percentages of subjects bearing one or two copies of the epsilon 4 allele was much higher in AD patients (54%) than in either CVD-C (29%) (p<0.05), VaD (15%) (p<0.001) or HC (13%) (p<0.001). Conclusions: These results strengthen the hypothesis that involves the APOE epsilon 4 allele as a predisposing factor for AD, but not for CVD or VaD.
MeSH term(s)	Aged ; Alleles ; Alzheimer Disease/genetics ; Alzheimer Disease/psychology ; Apolipoproteins E/genetics ; Cerebrovascular Disorders/genetics ; Cerebrovascular Disorders/psychology ; Dementia, Vascular/genetics ; Dementia, Vascular/psychology ; Female ; Gene Frequency ; Genotype ; Humans ; Male ; Neuropsychological Tests ; Psychiatric Status Rating Scales
Chemical Substances	Apolipoproteins E
Language	English
Publishing date	2002-11-15
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	80160-4
ISSN	1878-5883 ; 0022-510X ; 0374-8642
ISSN (online)	1878-5883
ISSN	0022-510X ; 0374-8642
DOI	10.1016/s0022-510x(02)00286-1
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Zs.A 308: Show issues

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Article: Influence of reagents formulation on real-time PCR parameters.

Burgos, J S / Ramírez, C / Tenorio, R / Sastre, I / Bullido, M J

Molecular and cellular probes

2002 Volume 16, Issue 4, Page(s) 257–260

Abstract: Real-time polymerase chain reaction (PCR) techniques are increasingly used to quantify target sequences for diagnostic and research purposes. Due to its 'quantitative' character, it is very important to determine the variability of this technique ... ...

Abstract	Real-time polymerase chain reaction (PCR) techniques are increasingly used to quantify target sequences for diagnostic and research purposes. Due to its 'quantitative' character, it is very important to determine the variability of this technique correlating with several experimental conditions. The objective of this study was to analyse the effect of manufacturing lots of PCR reagents on two main PCR parameters, specificity and sensitivity. For this study, we used four different amplicons, using either mouse genomic DNA or viral DNA. Although a PCR product could be obtained in any of the conditions, we observed that there are relevant variations in sensitivity depending on the reagents formulation. We conclude that different lots of reagents may determine the analytical performance of PCR assays indicating that reagents testing are of special importance when the PCR protocol is used for quantitative purposes.
MeSH term(s)	Actins/genetics ; Animals ; DNA/analysis ; DNA, Viral/analysis ; Genome ; Herpesvirus 1, Human/genetics ; Indicators and Reagents ; Mice ; Polymerase Chain Reaction/methods ; Polymerase Chain Reaction/standards ; Reproducibility of Results ; Sensitivity and Specificity
Chemical Substances	Actins ; DNA, Viral ; Indicators and Reagents ; DNA (9007-49-2)
Language	English
Publishing date	2002-09-24
Publishing country	England
Document type	Journal Article
ZDB-ID	639082-1
ISSN	1096-1194 ; 0890-8508
ISSN (online)	1096-1194
ISSN	0890-8508
DOI	10.1006/mcpr.2002.0419
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Article: A polymorphism in the tau gene associated with risk for Alzheimer's disease.

Bullido, M J / Aldudo, J / Frank, A / Coria, F / Avila, J / Valdivieso, F

Neuroscience letters

2000 Volume 278, Issue 1-2, Page(s) 49–52

Abstract: Searching for tau genetic variations which could be associated with risk for Alzheimer's disease (AD), we have performed a mutational analysis of a region containing the whole exon 11 of the tau gene, which encodes a microtubule binding region critical ... ...

Abstract	Searching for tau genetic variations which could be associated with risk for Alzheimer's disease (AD), we have performed a mutational analysis of a region containing the whole exon 11 of the tau gene, which encodes a microtubule binding region critical for tau self-assembly, and we have found a biallelic polymorphism at position +34 of intron 11 (IVS11 + 34G/A). We have analyzed the allelic frequencies of this polymorphism in a case-control sample (167 clinically diagnosed AD and 194 controls) and found that the presence of any G allele (genotypes AG + GG) is associated with a five-fold AD risk in individuals carrying the apolipoprotein E4 allele, strongly suggesting that the combined effect of tau and apoE is relevant in relation with AD pathogenesis.
MeSH term(s)	Age of Onset ; Aged ; Alleles ; Alzheimer Disease/epidemiology ; Alzheimer Disease/genetics ; Apolipoprotein E4 ; Apolipoproteins E/genetics ; Binding Sites ; Case-Control Studies ; DNA Mutational Analysis ; Genetic Predisposition to Disease ; Genotype ; Humans ; Introns/genetics ; Microtubules/metabolism ; Middle Aged ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/metabolism ; Polymorphism, Genetic ; Risk Factors ; tau Proteins/genetics ; tau Proteins/metabolism
Chemical Substances	Apolipoprotein E4 ; Apolipoproteins E ; Nerve Tissue Proteins ; tau Proteins
Language	English
Publishing date	2000-01-07
Publishing country	Ireland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	194929-9
ISSN	1872-7972 ; 0304-3940
ISSN (online)	1872-7972
ISSN	0304-3940
DOI	10.1016/s0304-3940(99)00893-9
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Zs.A 1166: Show issues

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Article ; Online: Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease.

Dalmasso, Maria Carolina / Brusco, Luis Ignacio / Olivar, Natividad / Muchnik, Carolina / Hanses, Claudia / Milz, Esther / Becker, Julian / Heilmann-Heimbach, Stefanie / Hoffmann, Per / Prestia, Federico A / Galeano, Pablo / Avalos, Mariana Soledad Sanchez / Martinez, Luis Eduardo / Carulla, Mariana Estela / Azurmendi, Pablo Javier / Liberczuk, Cynthia / Fezza, Cristina / Sampaño, Marcelo / Fierens, Maria /

Jemar, Guillermo / Solis, Patricia / Medel, Nancy / Lisso, Julieta / Sevillano, Zulma / Bosco, Paolo / Bossù, Paola / Spalletta, Gianfranco / Galimberti, Daniela / Mancuso, Michelangelo / Nacmias, Benedetta / Sorbi, Sandro / Mecocci, Patrizia / Pilotto, Alberto / Caffarra, Paolo / Panza, Francesco / Bullido, Maria / Clarimon, Jordi / Sánchez-Juan, Pascual / Coto, Eliecer / Sanchez-Garcia, Florentino / Graff, Caroline / Ingelsson, Martin / Bellenguez, Céline / Castaño, Eduardo Miguel / Kairiyama, Claudia / Politis, Daniel Gustavo / Kochen, Silvia / Scaro, Horacio / Maier, Wolfgang / Jessen, Frank / Mangone, Carlos Alberto / Lambert, Jean-Charles / Morelli, Laura / Ramirez, Alfredo

Translational psychiatry

2019 Volume 9, Issue 1, Page(s) 55

Abstract: Rare coding variants in TREM2, PLCG2, and ABI3 were recently associated with the susceptibility to Alzheimer's disease (AD) in Caucasians. Frequencies and AD-associated effects of variants differ across ethnicities. To start filling the gap on AD ... ...

Abstract	Rare coding variants in TREM2, PLCG2, and ABI3 were recently associated with the susceptibility to Alzheimer's disease (AD) in Caucasians. Frequencies and AD-associated effects of variants differ across ethnicities. To start filling the gap on AD genetics in South America and assess the impact of these variants across ethnicity, we studied these variants in Argentinian population in association with ancestry. TREM2 (rs143332484 and rs75932628), PLCG2 (rs72824905), and ABI3 (rs616338) were genotyped in 419 AD cases and 486 controls. Meta-analysis with European population was performed. Ancestry was estimated from genome-wide genotyping results. All variants show similar frequencies and odds ratios to those previously reported. Their association with AD reach statistical significance by meta-analysis. Although the Argentinian population is an admixture, variant carriers presented mainly Caucasian ancestry. Rare coding variants in TREM2, PLCG2, and ABI3 also modulate susceptibility to AD in populations from Argentina, and they may have a European heritage.
MeSH term(s)	Adaptor Proteins, Signal Transducing/genetics ; African Continental Ancestry Group/genetics ; Aged ; Aged, 80 and over ; Alzheimer Disease/ethnology ; Alzheimer Disease/genetics ; Argentina/ethnology ; European Continental Ancestry Group/genetics ; Female ; Genetic Predisposition to Disease ; Genetic Variation ; Genome-Wide Association Study ; Genotype ; Humans ; Indians, North American/genetics ; Male ; Membrane Glycoproteins/genetics ; Middle Aged ; Phospholipase C gamma/genetics ; Receptors, Immunologic/genetics
Chemical Substances	ABI3 protein, human ; Adaptor Proteins, Signal Transducing ; Membrane Glycoproteins ; Receptors, Immunologic ; TREM2 protein, human ; Phospholipase C gamma (EC 3.1.4.3)
Language	English
Publishing date	2019-01-31
Publishing country	United States
Document type	Journal Article ; Meta-Analysis ; Research Support, Non-U.S. Gov't
ZDB-ID	2609311-X
ISSN	2158-3188 ; 2158-3188
ISSN (online)	2158-3188
ISSN	2158-3188
DOI	10.1038/s41398-019-0394-9
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Article: Identification of a novel mutation (Leu282Arg) of the human presenilin 1 gene in Alzheimer's disease.

Aldudo, J / Bullido, M J / Arbizu, T / Oliva, R / Valdivieso, F

Neuroscience letters

1998 Volume 240, Issue 3, Page(s) 174–176

Abstract: Many different mutations, causative of Alzheimer's disease, have been found in the presenilin-1 gene (PS-1). We have developed a screening method based on denaturing gradient gel electrophoresis (DGGE), which allows the mutational analysis of the whole ... ...

Abstract	Many different mutations, causative of Alzheimer's disease, have been found in the presenilin-1 gene (PS-1). We have developed a screening method based on denaturing gradient gel electrophoresis (DGGE), which allows the mutational analysis of the whole exon 9 of PS-1. Upon the screening of a Spanish sample of early onset familial Alzheimer disease cases, we have found a novel mutation in the PS-1 gene. The mutation (a T to G transition) results in a change of the amino acid at position 282 of the presenilin protein from leucine to arginine. This mutation is located in the hydrophobic domain number 7 (exon 9) close to the site of physiological cleavage processing. The average of onset of the affected members of this family is 43+/-5 years, and the average age of exitus of affected members is 56+/-3 years. The possibility to determine the specific pathologic mechanisms of this mutation is now open.
MeSH term(s)	Adult ; Alzheimer Disease/genetics ; Amino Acid Substitution/genetics ; Arginine/genetics ; Electrophoresis, Polyacrylamide Gel ; Female ; Genetic Testing ; Humans ; Leucine/genetics ; Male ; Membrane Proteins/genetics ; Middle Aged ; Pedigree ; Point Mutation/genetics ; Polymorphism, Genetic ; Presenilin-1 ; Risk Factors
Chemical Substances	Membrane Proteins ; PSEN1 protein, human ; Presenilin-1 ; Arginine (94ZLA3W45F) ; Leucine (GMW67QNF9C)
Language	English
Publishing date	1998-01-16
Publishing country	Ireland
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	194929-9
ISSN	1872-7972 ; 0304-3940
ISSN (online)	1872-7972
ISSN	0304-3940
DOI	10.1016/s0304-3940(97)00950-6
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