Department Of Human Genetics And Molecular Medicine
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Item Correction to: Association of the genetic variants of insulin receptor substrate 1 (IRS-1) with type 2 diabetes mellitus in a Saudi population (Endocrine, (2014), 47, 2, (472-477), 10.1007/s12020-014-0177-2)(Springer, 2020) Alharbi K.K.; Khan I.A.; Munshi A.; Alharbi F.K.; Al-Sheikh Y.; Alnbaheen M.S.Type 2 diabetes mellitus (T2DM) is a chronic degenerative disease, phenotypically and genetically heterogeneous, characterized by high levels of glucose and metabolic complications. Insulin receptor substrate 1 (IRS-1) plays a key role in the insulin-stimulated signal transduction pathway. A glycine-to-arginine substitution at codon 972 (G972R) (rs1801278) in the IRS-1 gene has been associated with impaired insulin action. Another SNP rs2943641 in the IRS-1 gene has been found to be associated with T2DM and insulin resistance in genome-wide association studies. The aim of the present study was to evaluate whether rs1801278 and rs2943641 are associated with increased risk of T2DM in the Saudi population. The study included 376 T2DM cases and 380 healthy controls. Genomic DNA was isolated using a commercially available kit supplied by Norgen Biotech Corp. Genotyping was performed by PCR and RFLP analysis. There was a significant difference in the genotypic distribution as well as allelic frequency between the T2DM cases and controls in case of both the polymorphisms for rs1801278 (1.752, 95 % CI 1.002–3.121; p = 0.04), and for rs2943641 (OR = 1.482, 95 % CI 1.176–1.867; p = 0.001). In conclusion, both the (rs1801278 and rs2943641) polymorphisms are associated with T2DM in the Saudi population.Item ACE-Triggered Hypertension Incites Stroke: Genetic, Molecular, and Therapeutic Aspects(Springer, 2019) Vasudeva K.; Balyan R.; Munshi A.Stroke is the second largest cause of death worldwide. Angiotensin converting enzyme (ACE) gene has emerged as an important player in the pathogenesis of hypertension and consequently stroke. It encodes ACE enzyme that converts the inactive decapeptide angiotensin I to active octapeptide, angiotensin II (Ang II). Dysregulation in the expression of ACE gene, on account of genetic variants or regulation by miRNAs, alters the levels of ACE in the circulation. Variable expression of ACE affects the levels of Ang II. Ang II acts through different signal transduction pathways via various tyrosine kinases (receptor/non-receptor) and protein serine/threonine kinases, initiating a downstream cascade of molecular events. In turn these activated molecular pathways might lead to hypertension and inflammation thereby resulting in cardiovascular and cerebrovascular diseases including stroke. In order to regulate the overexpression of ACE, many ACE inhibitors and blockers have been developed, some of which are still under clinical trials.Item Genetics of platelet traits in ischaemic stroke: focus on mean platelet volume and platelet count(Taylor and Francis Ltd, 2019) Vasudeva K.; Munshi A.Purpose/Aim of the study: The aim of this review is to summarize the role of genetic variants affecting mean platelet volume (MPV) and platelet count (PLT) leading to higher platelet reactivity and in turn to thrombotic events like stroke and cardiovascular diseases. Materials and Methods: A search was conducted in PUBMED, MEDLINE, EMBASE, PROQUEST, Science Direct, Cochrane Library, and Google Scholar related to the studies focussing on genome-wide association studies (GWAS), whole exome sequencing (WES), whole genome sequencing (WGS), phenome-wide association studies (PheWAS) and multi-omic analysis that have been employed to identify the genetic variants influencing MPV and PLT. Results: Antiplatelet agents underscore the crucial role of platelets in the pathogenesis of stroke. Higher platelet reactivity in terms of mean platelet volume (MPV) and platelet count (PLT) contributes significantly to the interindividual variation in platelet reaction at the site of vessel wall injury. Some individuals encounter thrombotic events as platelets get occluded at the site of vessel wall injury whereas others heal the injury without occluding the circulation. Evidence suggests that MPV and PLT have a strong genetic component. High throughput techniques including genome-wide association studies (GWAS), whole exome sequencing (WES), whole genome sequencing (WGS), phenome-wide association studies (PheWAS) and multi-omic analysis have identified different genetic variants influencing MPV and PLT. Conclusions: Identification of complex genetic cross talks affecting PLT and MPV might help to develop novel treatment strategies in treating neurovascular diseases like stroke. � 2019, � 2018 Informa UK Limited, trading as Taylor & Francis Group.Item Safety and ethics in biotechnology and bioengineering: What to follow and what not to(Elsevier Inc., 2017) Munshi A.; Sharma V.Biotechnology and bioengineering are disciplines of science, which use knowledge of biological sciences and advanced technologies to generate new and useful products and processes for the benefit of society. The potential of biotechnology and bioengineering is immense because it touches the entire spectrum of life including agriculture, food processing, medicine, and many other areas. The rapid advances in biotechnology and bioengineering have restricted most of the resources. Although, genetically modified organisms have many benefits, they are always considered to impose a threat to the environment and human health in some way or the other. The deliberate modification and transfer of specifically constructed gene assemblies by using advanced techniques has created continuing disagreement globally. Apart from blessings and benefits of these fields, ethical concerns such as informed consent, confidentiality, subjects for research, equal access to the benefits of research, mortality, benefits to the person employed for research such as insurance, intellectual property rights, and liability are required to be articulated. Beside this, major emphasis is on how to control bioterrorism using genetically engineered super pathogens and drugs to erase memory and immune system. Therefore, the bioethics for the safe regulation of potential benefits of biotechnology and bioengineering and for welfare of mankind and nature is of paramount consideration. Apex regulatory agencies such as US FDA, Environmental Protection Agency, and ICMR has proposed "Ethical Guidelines for Biomedical Research on Human Subjects," guidelines to regulate the developments in the area of Biomedical Science. The aim of this chapter is to delineate the ethical and safety concerns raised by applications of biotechnology and bioengineering.