ABSTRACT
There are about 40% of patients with type 1 and type 2 diabetes will develop diabetic nephropathy (DN), resulting in chronic kidney disease and potential organ failure. During the progression and development of DN, chronic elevated blood glucose (hyperglycaemia) together with glomerular hypertension leads to renal inflammation, progressive glomerulosclerosis and tubulointerstitial fibrosis resulting in organ failure. Genetic variants at a biomarker level could allow the detection of those individuals at high risk for diabetic nephropathy which could thus help in the treatment, diagnosis and early prevention of the disease. Current genome-wide relationship scans have recognized a number of chromosomal regions that possible include diabetic nephropathy susceptibility genes, and association analyses have evaluated positional applicant genes under these relation peaks. The possibility of increasing diabetic nephropathy is recovered several times by inheriting risk alleles at susceptibility loci of dissimilar genes like GST (glutathione-Stransferase), TCF (Transcription factor), ELMO1 (Engulfment and Cell Motility 1), IL-10 (Interleukin-10) and TRPC1 (transient receptor potential channel 1). The identification of these genetic variants at a biomarker level could thus, allow the detection of those individuals at high risk for diabetic nephropathy which could thus help in the treatment, diagnosis and early prevention of the disease.
ABSTRACT
Type 2 diabetes mellitus (T2DM) is a metabolic disorder characterized by polygenic hyperglycemia caused by insulin secretion or insulin resistance. Several environmental factors and genetics interact to increase the risk of developing type 2 diabetes and its complications. Among the various factors associated with genetic T2DM polymorphism of the same nucleotide in several genes, it has been widely studied and showed that the resulting genetic variants have a positive or negative correlation with T2DM, which increases or decreases the risk of T2DM. In this review, we will focus on the Peroxisome proliferator-activated receptor gamma (PPARG), Potassium voltage-gated channel subfamily J member 11 (KCNJ11), Transcription factor 7-like 2 (TCF7L2), Calpain-10 (CAPN10) and their relationship with T2DM, studied in different ethnic groups. The products of these genes are involved in the biochemical pathway leading to T2DM. The polymorphisms of these genes are widely studied in individuals of different ethnic groups. The results show that the genetic variants of the CAPN-10, TCF7L2, PPARG, and KCNJ11 genes can become a biomarker of risk for T2DM, and were studied in people from different ethnic groups. We tried to synthesize globally obtained results in the context of selected genes that could help researchers working in this area and ultimately it would be helpful to understand the mechanistic pathways of T2DM lead to early diagnosis and prevention.
ABSTRACT
Diabetic nephropathy accounts for the most serious microvascular complication of diabetes mellitus. It is suggested that the prevalence of diabetic nephropathy will continue to increase in future pretense a major challenge to the healthcare system resulting in increased morbidity and mortality. It occurs as a result of interaction between both genetic and environmental factors in individuals with T2DM-Type 2 diabetes mellitus. Genetic susceptibility has been offered as an important factor for the development of diabetic nephropathy, and various research efforts are being executed worldwide to identify the susceptibility gene for diabetic nephropathy. Several single nucleotide polymorphisms have been found in various genes giving rise to various gene variants which have been found to play a role in genetic susceptibility to diabetic nephropathy. The risk of developing diabetic nephropathy is increased several times by inheriting risk alleles at susceptibility loci of various genes like ACE, GST, TNF-α, COL4A1, eNOS, GLUT, etc. The identification of these genetic variants at a biomarker level could thus, let the detection of those individuals at high risk for diabetic nephropathy which could thus help in the treatment, diagnosis and early prevention of the disease. The present review discusses about the ACE-Angiotensin Converting Enzymeand GST-Glutathione S Transferase gene variants associated with diabetic nephropathy.
ABSTRACT
Age-related cataract has globally emerged as the leading cause visual impairment leading to blindness. Glutathione S-Transferases and their genetic variantsplay an important role in pathogenesis of cataract. This case-control study was carried out to investigate possible association of GSTT1/M1 polymorphism with Cataract risk in North Indians. Our study included 221 individuals, 132 as Cataract cases (70 with and 62 without hypertension) and 89 age and ethnicity matched controls. Genetic polymorphism in GST gene (GSTT1/M1 polymorphism) wasevaluated by multiplexPolymerase Chain Reaction (PCR) technique.The frequencies of the GSTM1-positive and GSTT1-positive in hypertensive cataract cases were 55.71%, 92.86%; while they were 61.29% and 95.16% in cataract cases without hypertension and; 46.07% and 97.75% in healthy controls respectively. The frequencies of GSTM1-null and GSTT1-null in hypertensive cataract cases were 44.29% and 7.14% %; while they were 38.71% and 4.84% in cataract cases without hypertension and; 53.93% and 2.25% in healthy controls respectively. The frequency of GSTT1/M1 positive wild type genotype was 48.57% in hypertensive and 56.45% in normotensive cataract cases while it was 43.82% in control subjects. Our study found no association between GSTT1/M1 polymorphism with cataract but a nearly significant relationship was observed in GSTM1 positive and GSTM1 null genotypes (p=0.065) with cataract in subjects without hypertension. The study needs furtherinvestigation due to limited sample size.
ABSTRACT
The discovery of RNA interference (RNAi) is among the most significant biomedical breakthroughs in recent history. Multiple classes of small RNA, including small-interfering RNA (siRNA) and micro-RNA (miRNA) play important roles in many fundamental biological and disease processes. RNA interference, triggered by double-stranded RNA molecules, was initially recognized as a handy tool to reduce gene expression but now it is recognized as a mechanism for cellular protection and cleansing. It defends the genome against molecular parasites such as viruses and transposons, while removing abundant but aberrant nonfunctional messenger RNAs. Nonetheless, these new pools of knowledge have opened up avenues for unraveling the finer details of the small RNA mediated pathways. In this paper, we discuss the molecular aspects in biomedical research of RNA interference and its applications.