Calcitonin-Related Polypeptide Alpha Gene Polymorphisms and Related Diseases

Calcitonin gene-related peptide (CGRP) is a neuropeptide containing 37 amino acids. CGRP is a potent vasodilator neuropeptide, which has protective mechanisms in physiological and pathological conditions. When released, CGRP is a peptide that is active in the cerebral circulation and interacts with the sympathetic nervous system. CGRP is very important in the treatment of cardiovascular diseases. In addition, CGRP, which is also associated with pain processes, has an important role in inflammation. Calcitonin-associated polypeptide alpha (CALCA), one of the isoforms of CGRP, functions through the wide CGRP receptors. Polymorphisms occurring in the CALCA gene are associated with diseases such as ischemic stroke, Parkinson’s disease, ovarian cancer, bone mineral density, migraine, schizophrenia, manic depression, and essential hypertension. In this section, the information was given about CALCA gene, which is one of its isoforms of CGRP. In addition, CALCA gene polymorphisms and diseases associated with these gene polymorphisms have also been addressed

Gene Polymorphisms Associated with Atrial Fibrillation

Atrial fibrillation (AF), which causes severe health problems, is a multi-factor disorder and is increasing day by day. AF is known to be one of the most common cardiac arrhythmias in clinical practice. AF can also be described as a cardiac dysrhythmia that causes severe cardiovascular morbidity and mortality. AF is known as an independent risk factor for death and it occurs a significant risk of morbidity due to stroke. There are many diseases that contribute to the development of AF. Diseases such as aging, heart failure, heart valve disorders, myocardial infarction, hypertension and diabetes mellitus are important factors in the development of structural AF. It is a known fact that AF prevalence increases with age. The mechanism underlying of AF is not fully understood, but genetic factors play an important role in the pathogenesis of this disease. There have been many studies aimed at investigating the genetic basis of AF, especially in recent years. In these studies, many mutations and variants have emerged which are identified as genetic risk factors in the development of AF. Identification of gene polymorphisms that play a role in the development of AF will be an important guide in the development of new therapies for the treatment of this condition

The Relationship between Alpha-Synuclein (SNCA) Gene Polymorphisms and Development Risk of Parkinson’s Disease

Parkinson’s disease (PD) is a neurodegenerative disorder affecting the motor system and occurring in the central nervous system. One of the symptoms of PD is accumulation of Lewy bodies and Lewy neurites. The alpha-synuclein (SNCA) gene is part of the protein complex called Lewy body. The SNCA gene encoding a presynaptic protein product is thought to play a role in PD-related important pathways. It is suggested that there is a relationship between the risk of PD development and SNCA levels, and it is suggested that SNCA level is an important marker in PD diagnosis. Various polymorphisms have been identified in the 5′ and/or 3′ UTR regions of the SNCA gene, and as a result of these polymorphisms, changes occur in the binding of transcription factors. The identification of the roles of SNCA gene polymorphisms in PD development may enable the development of new methods for the treatment of PD

Genetic Polymorphisms that Playing Role in Development of Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a complex heart disease with various physiopathological, morphological, functional, and clinical features. In this disease, HCM is known to be an autosomal genetic disease in more than half of the cases. Mutations in sarcomeric genes are thought to play an important role in the pathogenesis of the disease. Modifying genes and environmental factors also together affect the phenotypic expression and severity of HCM. The phenotypic expression of HCM is determined by causal sarcomeric gene mutations and the regulatory genetic basis of genes. HCM, a multi-factorial disease, involves the effects of many environmental gene modifiers and the sarcomeric/cytoskeletal genes. The single nucleotide polymorphisms occurring in the human genome differ in terms of susceptibility to disease in various populations. Therefore, the determination of genetic polymorphisms involved in the development of HCM disease is very important for the diagnosis of the disease

Investigation of The Effects of Serum Iron and Copper Levels in Ischemic Stroke Disease Development

INTRODUCTION: Ischemic stroke is characterized by loss of focal cerebral function due to impaired of brain-blood flow. Environmental factors and genetic factors may be effective together in the pathogenesis of ischemic stroke. Trace elements are important components of the biological structure, and toxic effects may occur when these trace elements are taken in more than the amount required for biological functions. The risk of neurological diseases such as ischemic stroke may increase as a result of imbalances in trace element levels. Therefore, the aim of this study is to investigate the effects of serum iron and copper levels in the development of ischemic stroke disease. METHODS: Our study consisted of 20 ischemic stroke patients and 36 healthy controls. Serum iron and copper levels measurements were performed using atomic absorption spectrophotometer method. RESULTS: Serum iron and copper levels were detected significantly lower in the patient group with ischemic stroke compared to the healthy control group (p<0.05). However, the significant difference was not determined in comparison of serum copper and iron levels according to gender between patient with ischemic stroke and healthy control groups (p>0.05). DISCUSSION AND CONCLUSION: In our study, it was determined that serum iron and copper levels may be effective risk factors for ischemic stroke disease. Thus, it was concluded that serum iron and copper trace element levels may be important biomarkers that may be evaluated in the diagnosis, prognosis and treatment of ischemic strok

Investigation of the relationship between MTHFR, IRS and CALCA gene polymorphisms and development of diabetic nephropathy in patients with type 2 diabetes mellitus

The aim of this study was to investigate the relationship between MTHFR, IRS and CALCA gene polymorphisms and development of diabetic nephropathy (DN) in patients with type 2 diabetes mellitus (DM). Our study included 93 patients with type 2 DM diagnosed as having nephropathy and 95 controls diagnosed with type 2 DM without development of DN. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used to determine the genotype distributions of MTHFR, IRS and CALCA gene polymorphisms. The results showed no statistically significant difference between DN patients and type 2 DM controls in terms of genotype distributions of MTHFR (C677T, A1298C), IRS (IRS-1 Gly972Arg, IRS-2 Gly1057Asp) and CALCA T692C gene polymorphisms (p > 0.05). However, in terms of allele frequencies for the MTHFR A1298C gene, the frequency of the C allele was significantly higher in the DN patients compared to the controls (p < 0.05). In the IRS-2 Gly1057Asp gene polymorphism, the G allele frequency was significantly higher in the DN patients than in the type 2 DM controls (p < 0.05). In the DN group, the individuals with one or less mutant alleles were significantly more than in the control group in terms of the IRS-2 Gly1057Asp gene polymorphism (p < 0.05). The C allele frequency for the MTHFR A1298C gene polymorphism and the G allele frequency for the IRS-2 Gly1057Asp gene polymorphism were indicated to be potential a genetic risk factor for the development of DN in patients with type 2 DM who developed DN

Calcitonin related polypeptide alpha gene polymorphisms according to plasma total homocysteine levels in ischemic stroke patients of Trakya Region

<p>The aim of this study was to determine the genotype distributions of calcitonin related polypeptide alpha (CALCA) gene polymorphisms according to the plasma total homocysteine levels in ischemic stroke patients and patient subtypes selected from Trakya Region. The study included 82 patients and 92 healthy controls. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used to determine the genotype distributions of CALCA gene polymorphisms. The plasma total homocysteine levels were measured by Immulite 2000XPi homocysteine kits. Significant differences were not found between the group of patients and the control group in terms of CALCA gene polymorphisms genotype distributions (<i>p</i> > 0.05). Significant differences were not found between ischemic stroke patients and healthy controls, in the patient subtypes with ischemic stroke in respect to the CALCA gene polymorphisms genotype distributions according to the plasma total homocysteine levels (<i>p</i> > 0.05). This suggests that the CALCA gene polymorphisms genotype distributions studied according to the plasma total homocysteine levels could not likely be considered a genetic risk factor for ischemic stroke development.</p