Jornal de Biomarcadores Moleculares e Diagnóstico

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.

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.

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 .

The association between psychosocial factors and cardiovascular diseases had been suggested. This review was performed to assess, from literature data, the pertinence of using new biomarkers in the occurrence or prognosis of cardiovascular diseases in a psychosocial context. We choose to consider wide-ranging descriptions of stress from psychological factors (occupational stress, financial strain, marital stress, social isolation, etc.) that may influence a physical health outcome (cardiovascular diseases).We addressed literature data confirming the link between candidate biomarkers (such as cortisol, endothelial dysfunction, pro-inflammatory cytokines, and allostatic load) and cardiovascular diseases in a context of psychosocial factors. It was shown a link between cortisol, endothelial dysfunction, pro-inflammatory cytokines, and the incidence or prognosis of cardiovascular diseases in a psychosocial context. Allostatic load index was also identified as a pertinent tool in the assessment of the cumulative psychosocial factors burden exerted on the body.