Medical
Haider Majid Haider Al-Zaidi; Fatemehsadat Mousavinasab; Nika Radseresht; Ali Reza Mirzaei; Yasaman Moradi; Mohammad Mahmoudifar
Abstract
Deafness can occur due to damage to the ear, especially the inner ear. In other cases, the cause is a heterogeneous genetic abnormality and is caused by the changes that occur in the genes involved in the hearing process. Mutations in GJB2 and SLC26A4 genes are one of the most important causes of deafness ...
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Deafness can occur due to damage to the ear, especially the inner ear. In other cases, the cause is a heterogeneous genetic abnormality and is caused by the changes that occur in the genes involved in the hearing process. Mutations in GJB2 and SLC26A4 genes are one of the most important causes of deafness in the world, which causes syndromic and non-syndromic hereditary hearing loss. The purpose of this study is to investigate GJB2 and SLC26A4 genes related to genetic syndromes of deafness and bioinformatic analysis at the genome and proteome level and to evaluate and compare the expression of these genes in different tissues of the human body. For this purpose, tools related to bioinformatics analysis such as UCSC and OMIM databases were used. One of the common genetic syndromes caused by mutations in these genes is pendred syndrome. The clinical symptoms of this disease are weight gain, constipation, dry skin, and hair, decreased energy, sleepiness, bulging belly, decreased body temperature, and slow growth. This disease does not currently have a specific treatment, so it is very important and fundamental to investigate the genetic factors affecting this disease. The results of this research showed that the transfer of potassium, sodium, and chlorine ions as well as the mutation in the SLC26A4 gene, which is responsible for the synthesis of pendrin protein, is very effective in the occurrence of pendred syndrome. To diagnose pendred syndrome more accurately, molecular methods should be used in genetic tests. The results of comparing the expression profiles of these two genes showed that the difference in the expression of these two genes is very high and, in general, the expression of the SLC26A4 gene in the body is very low. Because people with hearing loss have other problems including damage to other parts of the body such as the heart, kidneys, or eyes. Knowing the genetic cause in these cases allows the doctor to be aware of problems in other systems as well.
Medical
Naghmana Kanwal; Othman Rashid Al Samarrai; Haider Majid Haider Al-Zaidi; Ali Reza Mirzaei; Mohammad Javad Heidari
Abstract
MicroRNAs (miRNA) are a group of small non-coding RNAs that regulate gene expression at the RNA level. MicroRNAs have positive regulatory effects on protein translation processes and often induce their performance by binding to the 3'-UTR mRNA region. Also, microRNAs are involved in various cellular ...
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MicroRNAs (miRNA) are a group of small non-coding RNAs that regulate gene expression at the RNA level. MicroRNAs have positive regulatory effects on protein translation processes and often induce their performance by binding to the 3'-UTR mRNA region. Also, microRNAs are involved in various cellular processes, including development, cell division, cell signaling, and cell growth, and generally play an effective role in the cell cycle and control of physiological processes and cell pathology. Several studies confirm that microRNAs play an important role in the initiation and progression of cancer, and many of them act as oncogenes and tumor suppressors. On the other hand, microRNAs are important stimulating factors that can act as biomarkers in the diagnosis and prognosis of various types of cancer, and in many cases, the occurrence of mutations in microRNAs and open-reading templates can lead to cancer. MicroRNAs also play an effective role in regulating gene expression. Biological studies have shown that about 30% of all genes and the majority of genetic pathways are regulated by microRNAs. In general, microRNAs and their target molecules are potential biological goals for primary screening, targeted treatment, and pharmaceutical resistance, and identifying them provides a clear prospect for a better understanding of the pathways leading to cancer.
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