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'Some diseases/disorders which affect human beings are associated with altered levels of specific proteins in the body.'

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'Some diseases/disorders which affect human beings are associated with altered levels of specific proteins in the body.' Proteins are the most structurally sophisticated molecules within the body, each consisting of a unique three-dimensional shape. They make up approximately 50 % of the mass of each cell and consist of functions ranging from enzyme proteases in the stomach such as Trypsin, to hormones, which are transported in the blood such as Adrenaline. Alteration in the structure or level of a protein will be as a result of gene expression. This may result in a number of disorders and diseases, which affect the homeostasis of the body, with the potential of causing lasting damage. Two protein hormones with vital functions within the body are Insulin and Glucagon; these are secreted from the Islets of Langerhans within the pancreas. Alteration in levels of these hormones has a direct effect on carbohydrate metabolism, which is a major component of cellular respiration and the synthesis of organic molecules. These two hormones work via a process of negative feedback in order to maintain a constant level of blood glucose, which is approximately '90mg/ml in humans.'[1] Insulin secretion from beta cells is stimulated in response to high blood glucose concentrations. ...read more.


A potentially deadly disease caused by alteration in protein levels of Insulin is Diabetes Mellitus. This is caused by altered levels of insulin production, resulting from destruction of beta cells in the pancreas. This may result in either depleted levels of insulin secreted from the pancreas, or the alteration of the structure of insulin preventing recognition at insulin receptors. This disease causes, altered carbohydrate metabolism resulting in an uncontrolled increases in blood glucose concentration. The main physiological effect of this disease is that all cells become starved of glucose as a result of the lack of insulin within the blood. The liver tries to compensate for this lack of glucose within cells by stimulating glycogenolysis and metabolising glycogen stores, resulting in an immediate release of glucose into the blood. This is of little use to the cells, as insulin is not present to allow glucose uptake. The liver then undergoes glyconeogenesis and produces glycocorticoids, resulting in the degradation of muscle proteins. This again causes the release of glucose in the absence of insulin. ...read more.


Hyperglycaemia can also cause oedema, this results from non-enzymatic glycosalation. In this case excess glucose from the blood binds to amino groups on proteins within different tissues, resulting in blood leakage damaging cell membranes and therefore cell function. This demonstrates how the alteration of one protein can have a direct effect on others [2]. As the levels of insulin decline the symptoms of diabetes reappears therefore a number of insulin injections are required throughout the day. Diabetes occurs through a change in a single protein Insulin. Even when the protein is administered in the correct amounts the body is unable to bring about a normal response, this is shown by the effects of Hyperglycaemia. Carbohydrate metabolism demonstrates the importance and diversity of proteins within the body, this is shown through the number of enzymes needed to monitor metabolism and the individual receptors which recognise specific substrates. All of these examples are functioning proteins; alteration in the level of any would potentially have a profound effect on the body. [1] Campbell and Reece Biological Sciences, 6th Edition, Addison Wesley [2] http://www.revoptom.com/handbook/sect59a [3] Martini (2000) Fundamentals of Anatomy and Physiology, 5th Edition [4] http://www.mediplane.com/Education/Case_Studies/DKa.pdf Laura Heffy 02/11/04 ...read more.

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