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.
Bioinformatics
Ali Reza Mirzaei; Farzaneh Fazeli
Abstract
Autophagy is an effective regulatory process for eliminating tumors and worn-out intracellular components. Different groups of enzymes and regulatory elements are involved in the autophagy process. MAP1LC3A and BECN1 genes are the most important gene groups in autophagy. These genes, through the production ...
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Autophagy is an effective regulatory process for eliminating tumors and worn-out intracellular components. Different groups of enzymes and regulatory elements are involved in the autophagy process. MAP1LC3A and BECN1 genes are the most important gene groups in autophagy. These genes, through the production of beclin-1 and lc3 proteins, are involved in the production of autophagosomes. In general, both MAP1LC3A and BECN1 genes are active in cellular responses and the biological process. The aim of this study was bioinformatics analysis at the level of genome and proteome and to evaluate and compare the expression of MAP1LC3A and BECN1 genes in different human body tissues. The results of this study showed that the expression level of the BECN1 gene was relatively higher than the MAP1LC3A gene in different mammals. Cell analysis of MAP1LC3A and BECN1 genes by antibodies that bind to proteins of target genes showed that the protein encoded by the BECN1 gene is more present in the cytosol and the proteins encoded by MAP1LC3A gene are locally present in vesicles. It was also found that the protein encoded by the MAP1LC3A gene had a higher expression in brain tissues than in other tissues, while the beclin-1 protein in cardiac tissue showed higher expression than in other tissues. Finally, by using this information, it is possible to provide the ground for targeted therapies.
Bioinformatics
Ali Reza Mirzaei; Vida Shakoory-Moghadam
Abstract
Different groups of enzymes and regulatory elements are involved in the synthesis of Ribodioside A, which is one of the most important sweetening compounds in stevia. The UGT family (UDP-glycosyltransferase) is a group of regulatory genes that are very effective in converting steviol glycoside to Ribodioside ...
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Different groups of enzymes and regulatory elements are involved in the synthesis of Ribodioside A, which is one of the most important sweetening compounds in stevia. The UGT family (UDP-glycosyltransferase) is a group of regulatory genes that are very effective in converting steviol glycoside to Ribodioside A. Bioinformatics analyses on this gene family, which included the UGT74G1, UGT76G1, and UGT85C2 genes, showed that the protein encoded by these genes had a UDPGT protected protein domain. Also, the study of the secondary structure of these proteins showed that the total corrosion of these proteins is mainly from alpha-helix and random screws or loops that are connected with linear strands. Also, the study of the secondary structure of these proteins showed that the total corrosion of these proteins is mainly from alpha-helix and random screws or loops that are connected with linear strands. The results of studying the three-dimensional structure of the studied proteins confirmed the previous findings of high genomic similarity between these proteins. The results of the ProtScale program showed that the abundance of amino acids with negative hydropathicity in the sequence of these proteins is high, which is effective in creating plant resistance to drought stress. Finally, the codon preference trend of these proteins was investigated using the sequence manipulation suite database. This information can be used for other research, including the transfer of these proteins.
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