مقالات پذیرفته شده در هشتمین کنگره بین المللی زیست پزشکی
Investigating the effect of common mutations of SLC3A1, CLDN14, ALPL genes in patients with kidney stones in Tehran
Investigating the effect of common mutations of SLC3A1, CLDN14, ALPL genes in patients with kidney stones in Tehran
Mina Salamat Nikykond,1Faranak Jamshidiyan,2,*
1. Department of genetic, East Tehran Branch, Islamic Azad University, Tehran, Iran 2. Department of genetic, East Tehran Branch, Islamic Azad University, Tehran, Iran
Introduction: Kidney stone disease or nephrolithiasis is a common disease that affects 1% to 20% of the world's population. This disease affects more than 15% of men and more than 5% of women until the age of 70. Humans have suffered from urinary stones from centuries to 4000 BC, the most common urinary tract disease. The epidemiology of kidney stones is affected by global changes that depend on geographic, socio-economic, and weather factors. In addition, age, sex, race, and diet affect the prevalence and occurrence of the disease. Obesity and metabolic syndrome are known as risk factors for kidney stones. The probability of kidney stone formation is different in different parts of the world. It is estimated to be 1-5% in Asia, 9-5% in Europe, 3% in North America, and 20% in Saudi Arabia. Middle East, India, Pakistan, Thailand, Indonesia, and the Philippines) and tropical and subtropical regions reported high rates of kidney stones. Iran is located on the kidney stone belt, and this health issue has a high prevalence (5.7%) in this country. Without proper treatment, this disease can cause blockage of the ureter, blood in the urine, frequent urinary tract infections, vomiting, or painful urination, which leads to permanent functional damage to the kidneys. The etiology of kidney stones and related metabolic abnormalities is multifactorial, including genetic and environmental factors. In most patients, kidney stones' genetic factors and pathophysiology are poorly understood. However, in some cases, a monogenic disorder such as primary hyperoxaluria is responsible for the observed phenotype.
In recent years, research has shown that specific gene mutations related to the metabolism of minerals and electrolytes can increase the risk of developing kidney stones. Among these genes, we can mention SLC3A1, CLDN14, and ALPL. This study aims to investigate the effect of common mutations of these three genes in patients with kidney stones in Tehran. By identifying these mutations, we can better understand the molecular mechanisms that effectively form kidney stones. This understanding can lead to the development of more targeted and effective prevention and treatment strategies, potentially reducing the burden of kidney stone disease.
Methods: Polymerase chain reaction (PCR) is a method that is primarily used to quickly create several copies of a certain DNA or RNA sequence in order to accurately identify it, usually using agarose gel electrophoresis. Genes for expression experiments are often amplified, altered, and cloned using PCR. PCR is useful in a wide range of applications, such as forensics, paternity testing, mouse genotyping, biological connections, genetic disease diagnosis, and the detection of germs and viruses. SNP sequences for the ALPL, CLDN14, and SLC3A1 genes are examined.When a single nucleotide in the genome differs in paired chromosomes, the result is a DNA sequence alteration known as a single nucleotide polymorphism (SNP). In the coding area, certain SNPs alter the amino acid sequence of a protein, whereas other SNPs have no effect on the protein sequence. Gene splicing, transcription factor binding, and mRNA degradation may all be impacted by SNPs located outside of the coding area. SNPs operate as markers for examining imbalances whether or not they have an impact on the biological activity of gene products. With gene expression, genetic polymorphisms may be linked and detected, which is highly helpful in population genetics research and medical science. We can also determine the impact of gene expression and mutation of these genes on kidney stone disease condition by looking at the electrophoresis gel.
Results: The patient is better informed about the possibility of kidney stones and the existence of mutations in the targeted genes thanks to this initiative.
Conclusion: Investigating the common mutations with the studied SNPs rs200483989, rs219780, and rs1256328, as well as altering the genotypic structure of the mutations and assessing the presence of kidney stones in patients with this disease, have not been done for the current problem in Tehran. A nation's social genotyping need to be completed. This study may be seen as a significant step in figuring out the genetic variables influencing kidney stone incidence and toward developing more accurate diagnostic and treatment protocols for the Iranian populace.