Engin Eker

Apolopoprotein-E gene polymorphism and lipid profiles in Alzheimer's disease

In this study, the relationship between lipid profiles of sera and apolipoprotein E (apo E) gene polymorphism was investigated in 35 patients with Alzheimers disease (AD) and 29 healthy people. Apo E genotypes and allele frequencies of the AD patient group were: apo E2/3, 2 (5.7 percent); apo E2/4, 1 (2.9 percent); apo E3/3, 26 (74.3 percent); apo E3/4, 5 (14.3 percent); apo E4/4, 1 (2.9 percent); 2, 3(4.2 percent); 3, 59 (84.2 percent); 4, 8 (11.4 percent). The healthy groups apo E genotypes and allele frequencies were: apo E2/3, 1 (3.4 percent); apo E3/3, 27 (93.1 percent); apo E3/4, 1 (3.4 percent); 2, 1 (1.7 percent); 3, 56 (96.5 percent); 4, 1 (1.7 percent). In Alzheimers cases, 4 allele frequencies increased significantly as compared to the healthy group (p < 0.05). When the effects of the apo E isoforms on lipid profiles were evaluated, a relationship between apo E 4 allele and high total levels of serum cholesterol was found, whereas of apo E 2 allele was associated with the low total cholesterol of serum, although the difference was not statistically significant (p > 0.05). This study confirms the association of apo E 4 allele with lipid profiles in AD patients.

Interaction between apolipoprotein-E and angiotensin-converting enzyme genotype in Alzheimer's disease

Both apolipoprotein-E (apo-E) 4 allele and angiotensinconverting enzyme (ACE) deletion (D) polymorphism have been associated with a high risk for coronary heart disease. Increased frequency of the 4 allele has also been reported in patients with late-onset of familial and sporadic Alzheimers disease (AD). The primary aim of this study is to examine the possible relationship between the ACE gene polymorphism and AD. The second aim of this study is to explore the relation of the ACE and apo-E genotypes with AD. Polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP), and agarose gel electrophoresis techniques were used to determine the apo-E and ACE genotypes. The frequencies of ACE D and ACE insertion (I) allele among AD patients and controls were 55.7 percent versus 44.2 percent and 51.7 versus 48.2 percent, respectively. Apo-E allele frequencies in the AD group for 2, 3 and 4 were, 1.7 percent, 96.5 percent, and 1.7 percent, respectively. The apo-E allele frequencies of healthy groups for 2, 3 and 4 were 1 percent, 56 percent, and 1.7 percent, respectively. In conclusion ACE D and apo 4 allele were found to be more frequent in patients with Alzheimers disease than in the control group.

Case series with late-onset psychosis hospitalized in a geriatric psychiatry unit in Turkey: experience in 9 years.

In this article we report the first series of Turkish inpatients with late-onset psychosis, and describe our 9-year experience at the only inpatient geriatric psychiatry department in Turkey. Among 420 patients hospitalized between 1993 and 2002, 27 were psychotic. In this group, eight patients were diagnosed as having late-onset schizophrenia (LOS) and six very-late-onset schizophrenia-like psychosis (VLOSLP). Five patients had early-onset schizophrenia and eight had delusional disorder. Females were more frequently seen in the group with LOS and the group with VLOSLP. Except for one patient with LOS, all patients with VLOSLP and LOS had paranoid psychosis. Nihilistic delusions, delusions of poverty or guilt, thought withdrawal, thought insertion, and thought broadcasting were not seen in any of the patients. Additionally, none of the LOS or VLOSLP patients showed erotomanic delusions. Grandiose and mystic delusions were not seen in those with VLOSLP. Treatment results and antipsychotic dosages at discharge were similar to those in previous reports from other cultures.

Interleukin-1α –889 C/T Polymorphism in Turkish Patients with Late-Onset Alzheimer’s Disease

Background/Aims: The polymorphism (rs1800587) in the 5′-flanking regulatory region at –889 of the interleukin-1α gene has been shown to be associated with inflammatory diseases and Alzheimer’s disease (AD). The aim of the current study is to determine whether there is an association between the promoter region polymorphism of the interleukin-1α gene and late-onset AD in a cohort of Turkish patients. Methods: One hundred and four subjects with dementia of the Alzheimer type and 103 age-matched controls were genotyped according to the PCR with confronting two-pair primers method. Results: Although the distribution of genotypes did not significantly differ (p = 0.107), the difference between allelic frequency was nearly significant according to a χ2 test (p = 0.05) when the controls and patients were compared. Conclusion: Our results showed that there is no association between the –889 C/T transition on the interleukin-1α gene and late-onset AD in the Turkish population.

The Association Between Clusterin and APOE Polymorphisms and Late-Onset Alzheimer Disease in a Turkish Cohort

Previous studies have demonstrated that clusterin (CLU), which is also known as apolipoprotein J, is involved in the pathogenesis of Alzheimer disease (AD). In this study, we investigated the association between rs2279590, rs11136000, and rs9331888 single-nucleotide polymorphisms (SNPs) in CLU and apolipoprotein E (APOE) genotypes in a cohort of Turkish patients with late-onset AD (LOAD). There were 183 patients with LOAD and 154 healthy controls included in the study. The CLU and APOE polymorphisms were genotyped using the LightSNiP assay. The “GG” genotype of rs9331888 was significantly more frequent in patients with LOAD. The “CC” genotype of the SNP was significantly more frequent in controls. The rs9331888 “GG” genotype in patients and the “CC” genotype in controls were significantly higher in non-∊4 allele carriers of APOE. The haplotype analysis showed the CLU “GCG” haplotype was a risk haplotype. Our findings indicate the rs9331888 SNP of CLU is associated with LOAD independent of APOE.

Presenilin-1 Gene Intronic Polymorphism and Late-onset Alzheimer's Disease

Presenilin-1 is known to contribute to the pathogenesis of Alzheimers disease. The association of an intronic polymorphism (rs165932) of the presenilin-1 gene with late-onset Alzheimers disease has been documented. However, contradicting results have been shown in different populations. The aim of the current study is to determine whether there is an association between the intronic polymorphism of the presenilin-1 gene and late-onset Alzheimers disease in a cohort of Turkish patients. One hundred and seven participants with dementia of the Alzheimer type and 106 age-matched controls were genotyped according to BamH I restriction site in intron 8 of the presenilin-1 gene. The distribution of genotypes and alleles did not significantly differ according to χ 2 test (P = .52, P = .32, respectively), when the control and patients were compared. Consequently, our results showed that the 1/1 genotype does not increase the risk of developing late-onset Alzheimers disease in the Turkish population.

A fatal case of urosepsis due to Corynebacterium riegelii

Corynebacterium species other than Corynebacterium diphtheriae rarely cause infections in human but rather reside in flora, however they have been reported to cause opportunistic infections in both immunocompromised and immunecompetent patients. Here we report for the first time a case of an elderly female patient presenting with a fatal urosepsis caused by a recently defined pathogen, Corynebacterium riegelii, identified on second day after patient hospitalization leading to a progressive worsening and death of the patient on 6th day.

Behavioral and Psychological Symptoms in Turkish Alzheimer’s Patients

Studying behavioral and psychological symptoms of dementia (BPSD) across cultures allows the identification of similarities and differences that may be useful to determine the best approach to managing these symptoms in different populations. Although BPSD are not yet regarded as a main health issue in many developing countries, such as Turkey, these symptoms will undoubtedly become a management issue in the near future. There are also racial, ethnic, and cultural differences in dementia caregiving. There are some cross-national studies that use similar methodology in AD, and very few studies on BPSD that include developing countries or migrant populations. Although the BPSD constitute one of the major domains of symptomatology of age-associated dementia, Turkish family practitioners, residents in psychiatry and neurology, and even general psychiatrists and neurologists do not in general have sufficient experience to evaluate BPSD. Family members in Turkey are more likely to report behavioral and affective disturbances rather than memory problems. Caregivers in our community may underreport BPSD because of the fear the patient will be labeled or institutionalized, their need to maintain an acceptable social facade, their desire not to relinquish the caregiver role, and their religious values. Cultural influences must be considered in the studies of BPSD. Western countries should be able to compare results with different cultures. Therefore, joint studies are important.

Association between clusterin polymorphisms and Alzheimer’s disease

Background:Vitamin D insufficiency has been associated with Alzheimer’s disease (AD) and impaired cognition. Recent studies have also shown significant associations between vitamin D receptor (VDR) single nucleotide polymorphisms (SNPs), AD and cognitive decline. While Fok1 SNPs have not been directly implicated in AD, the TaubF haplotype (combined polymorphisms in Taq1, Apa1, Tru91, Bsm1,Fok1) has been. A recent study also revealed a significant association between Fok1 and global cognition. We hypothesized that executive functioningwould differ among Fok1 SNPs and sought to examine the relationship between Fok1 genotype, vitamin D level, and cognitive functioning. Methods: Participants (n1⁄478) were healthy adults living at a northern latitude (54N) assessed in winter months for serum vitamin D (25OHD) levels and underwent cognitive testing with the Symbol Digits Modalities Test, verbal (phonemic) fluency, digit span and CANTAB battery, including a spatial working memory (SWM) task. Genotyping for Fok1 (rs2228570) was done by TaqMan assay (ABI3700). Results:Prevalence of Fok1 SNPs (AA, AG, GG) were in approximate Hardy Weinberg Equilibrium. Vitamin D levels, age, and sex did not differ significantly but years of education (YOE) was higher in the GG (16.864) versus AG (14.263) groups (p1⁄4.022). Therewas a significant difference among SNPs on both strategy, AA1⁄428.368, AG1⁄434.566, GG1⁄432.567; F(2,75)1⁄43.18, p1⁄4.047 and error measures, AA1⁄415.4616, 34.3617, 28.2619; F(2,75)1⁄43.54, p1⁄4.034, of the SWM task, a test of nonverbal executive functioning. In particular, the AA group performed best and significantly better than the AG group (Bonferroni p’s <.05). Results did not change with correction for YOE. There were no significant differences among SNPs on any of the other cognitive tests. Conclusions:Polymorphisms in the Fok1 VDR gene may contribute to differences in cognitive function, independently of vitamin D level and YOE. In particular, the SWM task differentiated between genotypes on two measures. This same task has previously been shown to differentiate between individuals with insufficient and sufficient levels of vitaminD.Our findings add to existing literature that Fok1 polymorphisms are associated with nonverbal executive task performance in addition to global cognition. Given our small sample size, these preliminary results necessitate confirmation in a larger study.

P1-340: Vitamin D receptor, Presenilin 1 and interleukin 1 alpha gene SNPs and late-onset Alzheimer’s disease

demented controls. Moreover, all the mutations (even the homoplasmic ones) found in hippocampus of AD patients were mainly present in mtDNA genes codifying for complex I and IV subunits of the respiratory chain, that are known to be more damaged in AD. Finally the T146C (previously described) and the A1871G (not known in literature) mutations have been found only in some AD patients but not in controls, suggesting a possible AD specificity.