A Novel Polymorphic Purine Complex at the Upstream Region of the Human Caveolin-1 Gene and Risk of Alzheimer’s Disease

2009 ◽  
Vol 24 (S1) ◽  
pp. 1-1
Author(s):  
M. Ohadi ◽  
Y. Heshmati ◽  
A. Mirabzadeh ◽  
H.R. Khorram Khorshid ◽  
K. Kamali
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Late Onset ◽  
Upstream Region ◽  
Case Group ◽  
Control Groups ◽  
Gene Encoding ◽  
Aberrant Expression ◽  
Caveolin 1 ◽  
And Control

Crucial interaction of caveolin-1 (CAV1) with beta- and gamma-secretases, and aberrant expression of the gene encoding this protein in Alzheimer's disease (AD) support a role for CAV1 in the pathophysiology of this disease.We report a novel polymorphic purine complex stretching ~150 bp of genomic DNA at the 1.5 kb upstream region of the human CAV1 gene, alleles and genotypes of which are associated with sporadic late-onset AD. Extra-short alleles were observed in the case group that were absent in the control subjects. Increased homozygosity for haplotypes was also observed at this region in the Alzheimer's cases, for those alleles and allele lengths shared by the case and control groups [(c2=30.75, df=1, p< .000, OR=4.54, CI 95% (2.56-8.3)]. This region contains GGAA and GAAA motifs, the consensus binding sites for the Ets and IRF family transcription factors, respectively, and is highly conserved in distantly-related non-human primates in respect with location and motif sequence. The effect of this complex sequence on the expression of CAV1, and the related mechanisms in the pathophysiology of AD remain to be clarified.

Extreme Alleles at the Human Caveolin 1 Gene Novel Purine Complex and Risk of Alzheimer’s Disease

2009 ◽  
Vol 24 (S1) ◽  
pp. 1-1
Author(s):  
M. Ohadi ◽  
Y. Heshmati ◽  
A. Mirabzadeh
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Neurodegenerative Disorders ◽  
Binding Sites ◽  
Late Onset ◽  
Cell Types ◽  
Structural Protein ◽  
Aberrant Expression ◽  
Caveolin 1 ◽  
Wide Range

Caveolin-1 (CAV1) is the principal structural protein of caveolae membranes that are found in most cell types. Aberrant expression and mutation of this gene are associated with a wide range of disorders including neurodegenerative disorders and various cancers. We report a novel purine complex of three polymorphic motifs located at the enhancer region of the gene and risk of late-onset Alzheimer's disease. Extreme haplotypes with accumulated homozygosity for those haplotypes were observed in the Alzheimer's cases comparing with the controls (p< 0.000). Based on our findings, there is a window of haplotypes and haplotype lengths in the controls. Shorter and longer haplotypes were associated with Alzheimer's disease in our cases.This purine complex contains GGAA and GAAA motifs, the consensus binding sites for the Ets and IRF family transcription factors, respectively, and is highly conserved in distantly-related non-human primates in respect with location and motif sequence. The effect of the extreme haplotypes in the expression of the gene and the pathophysiology of Alzheimer's disease remain to be clarified.

P4-079 Is variation in the gene encoding insulin-degrading enzyme (IDE) a risk factor in late-onset Alzheimer's disease?

2004 ◽  
Vol 25 ◽  
pp. S496-S497
Author(s):  
Petra Nowotny ◽  
Scott Smemo ◽  
Tony Hinrichs ◽  
Peter Holmans ◽  
Kristina Tracey ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Risk Factor ◽  
Late Onset ◽  
Insulin Degrading Enzyme ◽  
Gene Encoding ◽  
Degrading Enzyme

scholarly journals Concomitance of numerical chromosomal alterations with structural in an elderly with Alzheimer’s disease: a case report

2019 ◽  
Vol 29 (4) ◽  
pp. 34464
Author(s):  
Kledson Moraes Nunes ◽  
Talísia Nascimento Vianez ◽  
Denise Corrêa Benzaquem ◽  
Natalia Dayane Moura Carvalho ◽  
Cleiton Fantin
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Chromosomal Abnormalities ◽  
Late Onset ◽  
Cognitive Disorder ◽  
Chromosome 21 ◽  
Chromosome 1 ◽  
Chromosome 15 ◽  
First Case ◽  
And Control

AIMS: To report the first case the concomitance of numerical chromosomal abnormalities with structural as well as chromosomal abnormalities structural in a patient diagnosed with Alzheimer disease in Manaus/Amazonas.CASE DESCRIPTION: A male patient with 76 years of age was diagnosed with diagnosis of cognitive disorder- Alzheimer’s disease with late onset - temporal variant after laboratory, physical and imaging exams. Cytogenetic analysis was requested for this patient, revealing the presence the concomitant of numerical and structural chromosomal abnormalities with metaphase cells composed of 45 chromosomes with the loss of one of the homologues of chromosome 21 (monosomy) and a deletion of the long arm of one of the homologues of chromosome 1 [45, XY, -21, del (1) (q?)] and metaphase cells containing 46 chromosomes with a deletion of the long arm of one of the homologues of chromosome 15 [(46, XY, del (15) (q?)]. Currently, the patient is in outpatient treatment for maintenance and control of the disease.CONCLUSIONS: Our study has underlined that karyotyping is one of the fundamental investigations for patients with Alzheimer’s disease. It highlighted, in the form of a chromosomal abnormality, may have been the risk factor in Alzheimer’s disease.

scholarly journals Investigation of five polymorphic DNA markers associated with late onset Alzheimer disease

Genetika ◽  
2013 ◽  
Vol 45 (2) ◽  
pp. 503-514 ◽  
Author(s):  
Jalal Gharesouran ◽  
Maryam Rezazadeh ◽  
Mohaddes Mojtaba
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Dna Markers ◽  
Neurodegenerative Disorder ◽  
Late Onset ◽  
The Elderly ◽  
Healthy Controls ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
And Control

Alzheimer's disease is a complex neurodegenerative disorder characterized by memory and cognitive impairment and is the leading cause of dementia in the elderly. The aim of our study was to examine the polymorphic DNA markers CCR2 (+190 G/A), CCR5?32, TNF-? (-308 G/A), TNF-? (-863 C/A) and CALHM1 (+394 C/T) to determine the relationship between these polymorphisms and the risk of late onset Alzheimer's disease in the population of Eastern Azerbaijan of Iran. A total of 160 patient samples and 163 healthy controls were genotyped by PCR-RFLP and the results confirmed using bidirectional sequencing. Statistical analysis of obtained data revealed non-significant difference between frequency of CCR5?32 in case and control groups. The same result was observed for TNF-? (-863 C/A) genotype and allele frequencies. Contrary to above results, significant differences were detected in frequency of TNF-? (-308 G/A) and CCR2-64I genotypes between the cases and healthy controls. A weak significant difference observed between allele and genotype frequencies of rs2986017 in CALHM1 (+394 C/T; P86L) in patient and control samples. It can be concluded that the T allele of P86L variant in CALHM1 & +190 G/A allele of CCR2 have a protective role against abnormal clinical features of Alzheimer's disease.

scholarly journals Effects of Hand Exercise on Eating Action in Patients With Alzheimer’s Disease

2018 ◽  
Vol 34 (1) ◽  
pp. 57-62 ◽  
Author(s):  
Li-Li Chen ◽  
Hong Li ◽  
Xiao-Huan Chen ◽  
Shuang Jin ◽  
Qiu-Hua Chen ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Nursing Home ◽  
Exercise Group ◽  
Effective Intervention ◽  
Control Group ◽  
Daily Routine ◽  
Control Groups ◽  
And Control

We aim to investigate whether a popular hand exercise could be used to improve the action of eating in patients with Alzheimer’s disease (AD). A 6-month intervention was conducted in 60 patients with AD who live in a nursing home. They were divided into hand exercise and control groups. Patients of the control group maintained their daily routine. The improvement of Edinburgh Feeding Evaluation in Dementia scale in hand exercise group was significantly greater than in the control group ( P = .003). Significant differences in time of autonomous eating and time of simulated eating between patients in the hand exercise and control groups ( P < .05) were noted. The improvements in accuracy of eating action and coordination of eating action from baseline were significant in hand exercise group compared to the control group ( P = .020 and .014, respectively). Hand exercise is a safe and effective intervention to improve the feeding and eating of people with AD.

scholarly journals Inter-Individual Differences in Exercise Responses in Alzheimer’s Disease

2020 ◽  
Vol 4 (Supplement_1) ◽  
pp. 188-188
Author(s):  
Fang Yu ◽  
Dereck Salisbury ◽  
Michelle Mathiason
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Individual Differences ◽  
Aerobic Exercise ◽  
Aerobic Fitness ◽  
Cognitive Responses ◽  
Walk Test ◽  
Control Groups ◽  
Ergometer Exercise ◽  
And Control

Abstract Aerobic exercise is widely supported as a disease-modifying treatment for Alzheimer’s disease (AD) in animal models; however, its effects on cognition have been mixed in human studies, which may be attributable to inter-individual differences in aerobic fitness and cognitive responses to aerobic exercise. This study evaluated inter-individual differences in aerobic fitness and cognitive responses to 6-month aerobic exercise in participants with AD dementia by secondarily analyzing the FIT-AD Trial data. Aerobic fitness with the shuttle walk test (SWT), 6-minute walk test (6MWT), and maximal oxygen consumption (VO2max) from cycle-ergometer exercise test, and cognition with the AD Assessment Scale–Cognition (ADAS-Cog). Inter-individual differences were calculated as the differences in the standard deviation of 6-month change (SDR) in outcomes between the intervention and control groups. The sample size was 78 (77.4±6.3 years old, 15.7±2.8 years of education, 41% women). VO2max was available in 26 participants (77.7±7.1 years old, 14.8±2.6 years of education, 35% women). The results show that the SDR was 37.0, 121.1, 1.7, and 2.3 for SWT, 6MWT, VO2max, and ADAS-Cog, respectively, but there were no statistically significant differences between the intervention and control groups in these measures over six months. Our results indicate that inter-individual differences exist in aerobic fitness and cognitive responses to aerobic exercise in AD, which contributed to the favorable, but not statistically significant between-group differences in aerobic fitness and cognition. To conclude, our study is the first to demonstrate inter-individual differences in the responses to aerobic exercise in AD dementia using SDR.

scholarly journals Association between increased levels of amyloid-β oligomers in plasma and episodic memory loss in Alzheimer’s disease

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Xue Meng ◽  
Tao Li ◽  
Xiao Wang ◽  
Xiaozhen Lv ◽  
Zhiyu Sun ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Episodic Memory ◽  
Cognitive Performance ◽  
Memory Performance ◽  
Amyloid Β ◽  
Disease Assessment ◽  
Control Groups ◽  
Delayed Recall ◽  
And Control

Abstract Objective The objectives of this study were to investigate whether the plasma levels of oligomeric amyloid-β (OAβ) were affected in Alzheimer’s disease (AD) and to examine the associations (or possible correlations) between plasma OAβ levels and memory performance. Method Thirty subjects with AD and 28 cognitively normal controls were recruited in the study. The multimer detection system (MDS) was used to measure the levels of OAβ in the plasma. In addition to assessing the general cognitive function with the Mini-Mental State Examination (MMSE), Cognitive Abilities Screening Instrument (CASI), and Alzheimer’s Disease Assessment Scale–cognitive portion (ADAS-Cog), the common objects memory test (COMT) was used to examine the episodic memory performance. Pearson’s and partial correlation analyses were conducted to explore the associations between cognitive performance and OAβ levels in the plasma. A receiving operating curve (ROC) analysis was used to discriminate between the AD and control groups. Results The plasma OAβ levels in the AD group were significantly higher than those in the control group [1.88 (0.38) ng/ml vs 1.20 (0.40) ng/ml, p < 0.001]. The elevated levels of plasma OAβ showed a strong correlation with cognitive performance in patients with AD, including an inverse correlation with scores on the MMSE (r = − 0.43, p = 0.02), CASI (r = − 0.56, p < 0.01), and the immediate recall (r = − 0.45, p = 0.01), 5-min delayed recall (r = − 0.56, p < 0.01), and 30-min delayed recall (r = − 0.71, p < 0.001) tests of the COMT, and a positive correlation with the ADAS-Cog scores (r = 0.59, p < 0.001). The EDTA plasma Aβ oligomer optical density (OD) value measured using the MDS could discriminate between the AD and control groups with an area under the curve (AUC) of 0.89. The optimal sensitivity and specificity were 82.1% and 90.0%, respectively. Conclusion The elevated levels of OAβ in the plasma distinguished the AD and control groups and were associated with the severity of symptoms, especially memory performance, in patients with AD. Our results suggested that plasma OAβ could potentially be a simple and non-invasive blood-based biomarker for AD diagnosis. Furthermore, longitudinal studies are warranted to explore the application of plasma OAβ levels as a valid diagnostic biomarker in patients with AD.

scholarly journals Alexithymia in Alzheimer’s Disease

2020 ◽  
Vol 10 (1) ◽  
pp. 44
Author(s):  
Eva Mª Arroyo-Anlló ◽  
Corinne Souchaud ◽  
Pierre Ingrand ◽  
Jorge Chamorro Sánchez ◽  
Alejandra Melero Ventola ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cognitive Abilities ◽  
Rating Scale ◽  
Mood State ◽  
Neuropsychological Test ◽  
Control Group ◽  
Control Groups ◽  
Significant Difference ◽  
And Control

Alexithymia is widely recognized as the inability to identify and express emotions. It is a construct which consists of four cognitive traits such as difficulty in identifying feelings, describing feelings to others, externally oriented thinking, and limited imaginative capacity. Several studies have linked alexithymia to cognitive functioning, observing greater alexithymia scores associated with poorer cognitive abilities. Despite Alzheimer’s disease (AD) being a neurodegenerative pathology characterized by cognitive troubles from the early stages, associated to behavioral and emotional disturbances, very few investigations have studied the alexithymia in AD. These studies have shown that alexithymia scores—assessed with Toronto Alexithymia Scale (TAS)—were greater in AD patients than healthy participants. The objective of the study was to investigate if the alexithymia was present in patients with mild AD. We hypothesized that the AD group would show more alexithymia features than the control group. We evaluated 54 subjects, including 27 patients diagnosed with mild AD and 27 normal healthy controls, using the Shalling Sifneos Psychosomatic Scale (SSPS-R) and a neuropsychological test battery. Using non-parametric statistical analyses—Wilcoxon and Mann–Whitney U tests—we observed that the SSPS-R scores were similar in the AD and control groups. All participants showed SSPS-R scores below to 10 points, which means no-alexithymia. We did not find significant correlations between SSPS-R scores and cognitive variables in both groups (p > 0.22), but we observed a negative association between name abilities and alexithymia, but it does not reach to significance (p = 0.07). However, a significant correlation between SSPS-R score and mood state, assessed using Zerssen Rating Scale, was found in both groups (p = 0.01). Because we did not find a significant difference in the alexithymia assessment between both subject groups, pot hoc analyses were computed for each item of the SSPS-R. We made comparisons of alexithymic responses percentages in each SSPS-R item between AD and control groups, using Fisher’s test. We observed that AD patients produced more alexithymic responses in some items of SSPS-R test than the control group, particularly about difficulties to find the words to describe feelings, as well as difficulties of imagination capacity and externally oriented thinking. The present results do not confirm our hypothesis and they do not support the results of previous studies revealing great alexithymia in AD.

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