Hypertension is immensely common in Turkish subjects in Trakya region. The renin angiotensin system (RAS) helps maintain blood pressure and salt homeostasis and appears important in the pathogenesis of hypertension. Angiotensin I-converting enzyme (ACE) is a key component of RAS. Insertion/Deletion (I/D) polymorphism of the ACE gene has been implicated in the pathogenesis of cardiovascular diseases. In addition to this, the association between ACE I/D polymorphism and hypertension is controversial, when numerous studies have addressed the role of ACE I/D polymorphism in the development of hypertension, there were different studies showed that no correlation has been found between ACE I/D polymorphism and in the development of hypertension. The objective of our study was to investigate the relation between the ACE gene I/D polymorphism and primary hypertension in Turkish subjects in Trakya region. We analyzed the ACE gene I/D polymorphism in 79 patients with primary hypertension as a primary hypertensive group and 38 age matched healthy individuals as a control group by using a polymerase chain reaction assay, and agarose gel electrophoresis system. The genotype distributions were not different between the patients and normal control groups in the men. But the frequency of ACE Deletion/Deletion (DD) genotype in patients with primary hypertension (35.5%) was significantly higher than in controls (21.4%) in the women. This result suggested that ACE DD genotype may be associated with primary hypertension in the women, not in the men, and showed the possibility of ACE DD genotype as a potent risk factor for primary hypertension for the women not for the men.
The pathogenic mechanisms of these diseases must be well understood for the treatment of neurological disorders such as Huntington's disease. Huntington's Disease (HD), a dominant and neurodegenerative disease, is characterized by the CAG re-expansion that occurs in the gene encoding the polyglutamine-expanded mutant Huntingtin (mHTT) protein. Genome editing approaches include zinc-finger nucleases (ZFNs), transcription activator-like effector nucleases (TALENs) and Clustered Regularly Interspaced Short Palindromic Repeats/Caspase 9 (CRISPR/Cas9) systems. CRISPR/Cas9 technology allows effective gene editing in different cell types and organisms. Through these systems are created isogenic control of human origin induced pluripotent stem cells (iPSCs). In human and mouse models, HD-iPSC lines can be continuously corrected using these systems. HD-iPSCs can be corrected through the CRISPR/Cas9 system and the cut-and-paste mechanism using isogenic control iPSCs. This mechanism is a piggyBac transposon-based selection system that can effectively switch between vectors and chromosomes. In studies conducted, it has been determined that in neural cells derived from HD-iPSC, there are isogenic controls as corrected lines recovered from phenotypic abnormalities and gene expression changes. It has been determined that trinucleotide repeat disorders occurring in HD can be cured by single-guide RNA (sgRNA) and normal exogenous DNA restoration, known as the single guideline RNA specific to Cas9. The purpose of this review in addition to give general information about HD, a neurodegenerative disorder is to explained the role of CRISPR/Cas9 system with iPSCs in HD treatment.
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.
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
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