Skin and kidney are commonly affected in systemic lupus erythematosus (SLE) with similar molecular mechanisms. Although clinical indicators of renal injury in SLE are fairly uncontroversial, few biomarkers are reliable. The role of Micro-RNAs (micro-RNAs) in lupus nephritis (LN) pathogenesis has been investigated to help in early diagnosis. The aim of work is to evaluate microRNA132 expression in SLE Egyptian patients with and without nephritis and the relation between micro-RNA132 and its long non-coding gene SOX2 in both patients groups. This is a casecontrol study involving 100 SLE patients with and without LN (LN and non-LN groups), and 50 age-and sex-matched healthy controls were carried out to detect micro-RNA132 and SOX2 expression with quantitative Real-Time Polymerase chain reaction methods. The SLE disease activity index (SLEDAI) was assessed. SLEDAI was (2-7) and (4-14) in non-LN and LN respectively.micro-RNA132 expression was significantly increased in patient groups compared to controls (1-1) (P<0.001*) but increased in LN (1.3-7.8) compared to non-LN group (0.5-2.3)(P<0.001*).SOX2 was significantly decreased in patient groups compared to controls (1-1) (P<0.001*) more in LN (0.01-0.14) compared to non-LN group (0.05-0.45) (P<0.001*) There was negative correlation between miRNA132 and SOX2 expression in both patients groups r=-0.677 in non LN, r=--0.756 in LN, (P<0.001*).In conclusion,micro-RNA132 and SOX2 may play a role in SLE activity and helping in the early diagnosis of LN.
A. Sathvik Raj
Cytogenetics is the branch of genetics that correlates the structure, number, and behaviour of chromosomes with heredity and diseases. Giemsa has become the most commonly used stain in cytogenetic analysis. Most G-banding techniques require pretreating the chromosomes with a proteolytic enzyme such as trypsin. Gbanding preferentially stains the regions of DNA that are rich in adenine and thymine. The study of chromosomes, which are long strands of DNA and protein that contain most of the genetic information in a cell .
Sandhya Kille
AA metabolism requires transamination as the first step, generating glutamate and alanine as the major products, followed by oxidative deamination of glutamate with glutamate dehydrogenase (GDH) to form nicotinamide adenine dinucleotide phosphate-oxidase (NAD(P)H), which is converted to ATP. The inborn errors of amino acid metabolism are a family of genetic conditions in which an enzyme deficiency results in the accumulation of a ninhydrin-positive amino acid or a proximal metabolite. They are conceptually identical to disorders caused by enzyme defects that result in the accumulation of the organic acid intermediates. The current chapter strives to highlight the clinical, biochemical, molecular, and pathological features of defects in aromatic amino acid processing and related neurotransmitter metabolism disorders, disorders of glycine metabolism, defects in the processing of sulfur-containing amino acids, disorders of branched-chain amino acid metabolism, proline metabolism, urea cycle disorders, and defects of serine synthesis. Amino acid nitrogen forms ammonia, which is toxic. The liver is the major site of amino acid metabolism in the body and the major site of urea synthesis. The liver is also the major site of amino acid degradation, and partially oxidizes most amino acids, converting the carbon skeleton to glucose, ketone bodies, or CO2. Amino acids are the building blocks of our cellular machinery in the form of proteins and protein complexes. In addition, many important metabolites (i.e., purine/pyrimidines, neurotransmitters etc.) are products of cellular amino acid metabolism.
Priyanka Dubey
Biomarkers are biochemical indicators that can be used to monitor biological changes in response to toxins or other stimuli. Researchers can measure and predict toxicological effects with the understand-ing that biomarkers within a biological system will fluctuate accord-ing to changes in that system. Modern gene therapy is often defined as a way that replaces one gene with another normal or therapeutic one. Although gene therapy has been used for several decades, but thus far it's not produced any clear-cut therapeutic results. Each year, an estimated 3 million babies worldwide, have birth defects. Quite 6 thousands single-gene disorders are currently known. Gene therapy is that the therapeutic delivery of virus gene into a patient’s cells to treat and cure diseases. The toxicological effects, which are actually the pharmacological effects of RCAs, but are perceived as adverse or toxicological effects, can be local or topical as well as systemic following absorption. In addition, the effects can be acute or long term. Also, the exposure can be acute, long, or repeated. Biomarkers can help doctors and scientists diagnose diseases and health conditions, find health risks in a person, monitor responses to treatment, and see how a person's disease or health condition changes over time. For example, an increased level of cholesterol in the blood is a biomarker for heart-attack risk.
Idiopathic Pulmonary Fibrosis (IPF) is a progressive and debilitating lung disorder of unknown origin, posing significant diagnostic challenges. The role of biomarkers in understanding and managing this condition is pivotal. This literature review explores the landscape of molecular and genetic biomarkers in the context of IPF. It delves into the recent advances in the field, emphasizing the potential of these biomarkers in early diagnosis, disease progression monitoring and therapeutic advancements. The review underscores the significance of biomarkers in unraveling the intricate pathogenesis of IPF and in paving the way for more personalized and effective approaches to patient care.
The use of Extracellular Vesicles (EVs) has emerged as a promising approach in the diagnosis and treatment of chronic liver conditions. Chronic liver diseases, including cirrhosis, Non-Alcoholic Fatty Liver Disease (NAFLD) and viral hepatitis, present significant health challenges worldwide. EVs, such as exosomes and microvesicles, are membrane-bound particles released by various cell types, carrying a cargo of proteins, nucleic acids and lipids. This review explores the diagnostic and therapeutic potential of EVs in the context of chronic liver diseases. By highlighting the role of EVs in liver disease pathogenesis, biomarker discovery and their application in drug delivery, this review underscores the significant advancements and future possibilities of EV-based strategies in managing and understanding chronic liver conditions.
Autoimmune neuromuscular disorders encompass a diverse group of conditions that affect the peripheral nervous system and muscles. Early and accurate diagnosis of these disorders is often challenging, necessitating the exploration of contemporary approaches to biomarkers for improved clinical management. This review examines the landscape of biomarkers in autoimmune neuromuscular diseases, encompassing conditions such as myasthenia gravis, Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy. The review delves into the role of molecular, genetic and immunological biomarkers in disease diagnosis, prognosis and therapeutic monitoring. By scrutinizing the latest advancements and their potential applications, we underscore the significance of contemporary biomarker strategies in advancing our understanding and management of autoimmune neuromuscular disorders.
Hsa-miR-665, a microRNA molecule, has emerged as a promising biomarker with significant potential in the realm of cancer prognosis. This review explores the landscape of Hsa-miR-665 and its role as a prognostic indicator in various cancer types. By examining the latest research findings and its implications, this review underscores the significance of Hsa-miR-665 as a biomarker in predicting disease outcomes, aiding clinical decisionmaking and advancing personalized cancer care.
Ahamed Bilal
Ocimum species known for its traditional value,which is used as culinary herb and assigned as medicine and spice plant. We used molecular techniques to assess the genetic variability and relatedness of 20 accessions of three germplasm of Ocimum spp. (Ocimum gratissimum, Ocimum sanctum and Ocimum basilicum) collected from different places. DNA was isolated by fixing a sample in alcohol without using liquid nitrogen. Molecular markers were used to assess genetic diversity in basil (Ocimum L. spp., Lamiaceae). Varieties were analyzed through RAPD markers with five Inter-simple sequence repeats (ISSR) primers to determine the extent of molecular characterization. PCR amplification of these regions using a single primer yields multiple amplification products that can be used as a dominant multi locus marker system for the study of genetic variation in various organisms. and the result showed various gene expression with the ISSR primer than RAPD markers and we found a maximum number of unique alleles were observed in O. basillicum with ISSR primer (1, 5, 8, 9, 11, 12, 13, 14) which mentioned on primer synthesized table. Among the 15 ISSR primers tested, we have got bands in the size range of 300 bp to 850 bp. Our observations suggested that morphological variability and ISSR analysis could help in identifying genetic variations among different varieties of basil, help in plant improvement and develop a well-organized way to conserve the genetic wealth of basil varieties. DNA based markers like ISSR are more useful than the traditional morphological and biochemical markers. Genetic relationships were examined among thirty germplasm accessions belonging to five Ocimum species using RAPD and ISSR markers.
Journal of Molecular Biomarkers & Diagnosis received 1932 citations as per Google Scholar report
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