Genetic Disorder Essay
Genes are codes for certain function that are found in DNA. The combination of genes is what makes each individual unique. MCADD is a genetic disorder, caused by a mutation or damage to the gene, ACADM, that codes for the enzyme, medium chain acyl CoA dehydrogenase. This results in the enzyme being absent or existing in minimal quantities. An enzyme increases the rate of a chemical reaction. Our body needs many enzymes in order to make the materials needed for our bodies to function and be healthy. The mutation that causes this disease is most often a nucleotide base replacement, occurring at the 985th position. Nucleotides are the basic units that make up nucleic acids like DNA. The replacement that is most common is the replacement of a
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G or guanine base for an A or adenine base. This simple replacement causes the ACADM gene to become ineffective in performing its function.
Our body uses carbohydrates or sugars and fats as sources of energy.
Fats or fatty acids can be broken down as a source of energy to restore blood sugar levels when glucose (sugar) levels are depleted. Glucose levels are usually low after exerting a lot of energy or not eating for a long period of time. Fatty acids need an enzyme called medium chain acyl CoA dehydrogenase in order for their long chains to be broken down into smaller ones. This disease is caused by a deficiency in this enzyme, which means that fat cannot be broken down completely and used as a source of energy. Fatty acids of medium length would buildup in the bloodstream and the body, causing major health problems. This also means that fasting could be detrimental to an individual with this disease. After not eating for a long period of time, blood sugar levels would drop and without the metabolism of fatty acids to restore glucose levels, energy would not be able to be produced and glucose levels would remain low. During fasting, the body normally converts fatty acids into smaller units called ketone bodies. Ketone bodies are small, water soluble compounds that can be picked up by the brain and muscle cells to be used as fuel to produce energy. During a period of fasting, an individual would not be able to completely break down fatty acids to produce ketone bodies therefore, leading to brain damage because it does not receive the energy it needs to perform its
function.
Offspring receive one copy of a gene from each parent. This disease is autosomal recessive, meaning that two copies of the mutated gene must be present in individuals that have this disease. This means that an individual with one copy of the mutated gene and one copy of the normal gene will not be affected by the disease. Each parent of the baby that has MCADD has one copy of the mutated ACADM gene. The baby affected by this disease must have received both copies of the mutated gene from each parent. If R represents the dominant gene and r represents the recessive gene than each parent has Rr. When two individuals with Rr makeup are crossed to produced offspring, the results will be RR, Rr, Rr, rr. This means that there is a 75% chance that the child will not be affected by the disease and 25% that it will be. This also indicates that there is a 50% chance that the child will be a carrier with one normal gene and one mutated. Therefore, there is a 25% chance of the second child having this disease.
G or guanine base for an A or adenine base. This simple replacement causes the ACADM gene to become ineffective in performing its function.
Our body uses carbohydrates or sugars and fats as sources of energy.
Fats or fatty acids can be broken down as a source of energy to restore blood sugar levels when glucose (sugar) levels are depleted. Glucose levels are usually low after exerting a lot of energy or not eating for a long period of time. Fatty acids need an enzyme called medium chain acyl CoA dehydrogenase in order for their long chains to be broken down into smaller ones. This disease is caused by a deficiency in this enzyme, which means that fat cannot be broken down completely and used as a source of energy. Fatty acids of medium length would buildup in the bloodstream and the body, causing major health problems. This also means that fasting could be detrimental to an individual with this disease. After not eating for a long period of time, blood sugar levels would drop and without the metabolism of fatty acids to restore glucose levels, energy would not be able to be produced and glucose levels would remain low. During fasting, the body normally converts fatty acids into smaller units called ketone bodies. Ketone bodies are small, water soluble compounds that can be picked up by the brain and muscle cells to be used as fuel to produce energy. During a period of fasting, an individual would not be able to completely break down fatty acids to produce ketone bodies therefore, leading to brain damage because it does not receive the energy it needs to perform its
function.
Offspring receive one copy of a gene from each parent. This disease is autosomal recessive, meaning that two copies of the mutated gene must be present in individuals that have this disease. This means that an individual with one copy of the mutated gene and one copy of the normal gene will not be affected by the disease. Each parent of the baby that has MCADD has one copy of the mutated ACADM gene. The baby affected by this disease must have received both copies of the mutated gene from each parent. If R represents the dominant gene and r represents the recessive gene than each parent has Rr. When two individuals with Rr makeup are crossed to produced offspring, the results will be RR, Rr, Rr, rr. This means that there is a 75% chance that the child will not be affected by the disease and 25% that it will be. This also indicates that there is a 50% chance that the child will be a carrier with one normal gene and one mutated. Therefore, there is a 25% chance of the second child having this disease.