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Leana Miah

Gene Mutation
Mutations are changes in genes, which are passed on to daughter cells. DNA is a very stable molecule, and it doesn't suddenly change without reason, but bases can change when DNA is being replicated. Normally replication is extremely accurate, and there are even error-checking procedures in place to ensure accuracy, but very occasionally mistakes do occur. So a mutation is a base-pairing error during DNA replication. A mutation can result in an inefficient enzyme. This occurs through missense mutation when the base changes and results in different amino acid being coded for. A different polypeptide is produced and the tertiary structure is not the same as the original. The enzyme will have a different active site shape and so the substrate will no longer fit and catalyse the reaction. The importance of enzymes is shown by the fact that a lethal illness can be caused by the malfunction of just one type of enzyme out of the thousands of types present in our bodies. One example is the most common type of phenylketonuria. A mutation of a single amino acid in the enzyme phenylalanine hydroxylase, which catalyzes the first step in the degradation of phenylalanine, results in build-up of phenylalanine and related products. This can lead to intellectual disability if the disease is untreated. Metabolic pathways are series of chemical reactions occurring within a cell. In each pathway, a principal chemical is modified by a series of chemical reactions. Enzymes catalyze these reactions and often need dietary minerals, vitamins and other factors in order to function properly. Glycolysis was the first metabolic pathway discovered. The work of biochemists showed that chemical compounds in the cell are synthesized through a series of intermediates, a biochemical pathway. For example, the amino acid arginine is synthesized from glutamic acid. Each step is catalyzed by an enzyme and can be blocked by destroying its enzyme. The enzymes are destroyed by mutations in the genes that synthesize them. If any of the steps is blocked by mutation, the organism becomes an auxotroph. Some persistent stuttering is caused by mutations in a gene governing not speech, but a metabolic pathway involved in recycling old cell parts. A study done by Researchers at Washington University School of Medicine in St. Louis provides the first evidence that mutations affecting cellular recycling centers called lysosomes actually play a role in causing some people to stutter. They found mutations in three genes that encode a pathway for directing

Leana Miah

newly made lysosomal enzymes to the lysosomes. NAGPA encodes an enzyme responsible for the last step in addressing proteins to the lysosome. Draynas work identified three separate mutations in NAGPA in individuals who stutter. And according to Lees biochemical analysis, all three of the mutations impaired the enzyme, but each did so in a different way. In genetics, a mutagen is a physical or chemical agent that changes the genetic material, usually DNA, of an organism and thus increases the frequency of mutations above the natural background level. As many mutations cause cancer, mutagens are therefore also likely to be carcinogens. Not all mutations are caused by mutagens: "spontaneous mutations" occur due to spontaneous hydrolysis, errors in DNA replication, repair and recombination. Mutagens cause changes to the DNA that can affect the transcription and replication of the DNA, which in severe cases can lead to cell death. The mutagen produces mutations in the DNA, and deleterious mutation can result in impaired or loss of function for a particular gene, and accumulation of mutations may lead to cancer. Carcinogens cause cancer by altering DNA in cells, interfering with normal biological processes. Usually cells are able to detect this and attempt to repair the DNA; if they cannot, they undergo cell death to prevent further damage. When the damage interferes with cell death or encourages cell division, cancer occurs. Rapidly dividing cells, such as in skin, the stomach lining, breast tissue, and reproductive organs, are particularly sensitive to carcinogens due to harmful DNA being quickly copied. Tobacco smoke has also been identified as a rich source of dozens of carcinogens, including benzopyrene. DNA damaged by Benzopyrene-diol-epoxide Benzopyrene is a chemical found in cigarette smoke. Benzopyrene is converted to Benzopyrene-diol-epoxide in the body, which can randomly insert itself into the grooves of DNA. Once bound in the groove, DNA cannot be replicated or transcribed effectively. This may cause mutations in daughter cells or unfavorable effects on gene expression.

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