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Association Analysis of the Functional MAOA Gene Promoter and MAOB Gene Intron 13 Polymorphisms in Tension Type Headache Patients

MEHMET EMİN ERDAL | AYNUR ÖZGE | NURTEN ERDAL

Abstract Background. Monoamine oxidase (MAO) enzymes play an important role in the etiology of many neurological diseases. Tension type headache (TTH) treatments contain inhibitors for selective re-uptake of serotonin and monoamine oxidase inhibitors. MAO (EC 1.4.3.4) has two isoenzymes known as MAOA and MAOB. A promoter polymorphism of a variable number of tandem repeats (VNTR) in the MAOA gene seems to affect MAOA transcriptional activity in vitro. Also, G/A polymorphism in intron 13 (rs1799836) of the MAOB gene have been previously found to be associated with the variability of MAOB enzyme activity. Objectives. The aim of our study was to investigate a possible association of monoamine oxidase (MAOA and MAOB) gene polymorphisms in tension type headache. Material and Methods. MAO gene polymorphisms were examined in a group of 120 TTH patients and in another 168 unrelated healthy volunteers (control group). MAOA promoter and MAOB intron 13 polymorphisms were genotyped using PCR-based methods. Results. An overall comparison between the genotype of MAOA and MAOB genes and allele frequencies of the patients and the control group did not reveal any statistically significant difference between the patients and the control group (p = 0.162). Conclusions. Factors like estrogen dosage, ...

Genetic Variants of Synaptic Vesicle and Presynaptic Plasma Membrane Proteins In Alzheimer’s Disease

Erdal, Mehmet Emin | Özge, Aynur

Background: Alzheimer's disease (AD) is the most common cause of dementia in the elderly, and its etiology is still not fully understood. The aim of this study was to analyze the role of the genetic variants of two synaptic vesicle proteins (VAMP2, synapsin III) and two presynaptic plasma membrane proteins (syntaxin 1A, SNAP-25) in AD patients. We analyzed the functional polymorphisms of VAMP2, synapsin III, syntaxin 1A, and SNAP-25 genes. Method: Sixty-eight adult patients with Alzheimer disease and Seventy-eight healthy adults were included in the study. DNA was extracted from whole blood by the salting out procedure. We used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. We determined alleles and the genotypes of polymorphism of VAMP2, synapsin III, SNAP-25 and syntaxin 1A genes. Results: We observed significant differences in the genotypic distribution of the Synapsin III rs 133945 polymorphism for AD compared with that in controls. Also, we found significant differences in the allelic distribution of the Synapsin III rs 133946 polymorphism for AD compared with controls. We have found that individuals who have G alleles are 1.5 times more at risk of developing AD than those with C alleles. Exon 3 polymorphism of syntaxin 1A gene is as...