Bahram Kazemi1, Negar Seyed1, Elham Moslemi2, Mojgan Bandehpour2, Maryam Bikhof Torbati3, Navid Saadat4, Akram Eidi2, Elham Ghayoor1, Fereydoun Azizi4. 1. Cellular and Molecular Biology Research Center, Shahid Beheshti University, MC, Tehran, Iran. 2. Islamic Azad University of Iran, Science and Research Campus, Tehran, Iran. 3. Azad University, Shahre Rey Branch, Tehran, Iran. 4. Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University, M.C., Tehran, Iran.
Abstract
BACKGROUND: Patients with diabetes mellitus type II suffer from hyperglycemia because they are not able to use the insulin that they produce, often due to inadequate function of insulin receptors. There are some evidences that this deficiency is inherited in a dominant autosomal manner and leads to the malfunction of the pancreatic beta cells resulting in insulin excretion disorders. In this study, we sought to identify mutations in the insulin receptor (INSR) gene, which can cause insulin resistance in type II diabetic patients. METHODS: DNA was extracted from peripheral blood cells of the patients (n = 128) diagnosed with type II diabetes. All 22 exons of the INSR gene of the patients were analyzed for mutations running PCR, conformation-sensitive gel electrophoresis and DNA sequencing, consecutively. RESULTS: Approximately 26% of the patients had genetic mutations; however, most of them were not reported. These mutations include exon 2 (His171Asn, Ile172Ser, Cys196Ser and Ser210Arg), exon 3 (Gly227Asp and Gly232Ser), exon 8 (Thr543Ser), exon 9 (a heterozygote was observed with no change in phenylalanine at position 669), exon 13 (two heterozygotes: Arg890Pro with Asn865 remaining unchanged), exon 14 (Ala906Gly and Pro918Trp with Arg902 unchanged), exon 17 (Val1086Glu) and exon 19 (His1157Gln with Thr1172 unchanged). CONCLUSION: The lack of similar mutation records in literature and genetic data banks may suggest a geographic pattern for these INSR gene variants in our population.
BACKGROUND:Patients with diabetes mellitus type II suffer from hyperglycemia because they are not able to use the insulin that they produce, often due to inadequate function of insulin receptors. There are some evidences that this deficiency is inherited in a dominant autosomal manner and leads to the malfunction of the pancreatic beta cells resulting in insulin excretion disorders. In this study, we sought to identify mutations in the insulin receptor (INSR) gene, which can cause insulin resistance in type II diabeticpatients. METHODS: DNA was extracted from peripheral blood cells of the patients (n = 128) diagnosed with type II diabetes. All 22 exons of the INSR gene of the patients were analyzed for mutations running PCR, conformation-sensitive gel electrophoresis and DNA sequencing, consecutively. RESULTS: Approximately 26% of the patients had genetic mutations; however, most of them were not reported. These mutations include exon 2 (His171Asn, Ile172Ser, Cys196Ser and Ser210Arg), exon 3 (Gly227Asp and Gly232Ser), exon 8 (Thr543Ser), exon 9 (a heterozygote was observed with no change in phenylalanine at position 669), exon 13 (two heterozygotes: Arg890Pro with Asn865 remaining unchanged), exon 14 (Ala906Gly and Pro918Trp with Arg902 unchanged), exon 17 (Val1086Glu) and exon 19 (His1157Gln with Thr1172 unchanged). CONCLUSION: The lack of similar mutation records in literature and genetic data banks may suggest a geographic pattern for these INSR gene variants in our population.
Entities:
Keywords:
Diabetes type II; Insulin resistance; PCR; Conformation-sensitive gel electrophoresis; Iran
Authors: Ali Mohammad Foroughmand; Sana Shafidelpour; Merhrnoosh Zakerkish; Mehdi Pourmehdi Borujeni Journal: Afr Health Sci Date: 2019-09 Impact factor: 0.927