G6Pd
Virginia Commonwealth University
Name: Daniel M Sop
Thesis Proposal
GENETIC MODIFICATION OF THE HUMAN X-LINKED G6PD GENE & INDUCTION OF MALARIA RESISTANT GENES VIA STEM CELLS
Abstract
Glucose-6-phosphate dehydrogenase, also known as G6PD deficiency is one of the commonly known enzymes deficiencies in the human body and metabolism. Because some G6PD patients present a form of allergy to the fava bean, G6PD is also referred to as favism. Scriver, C.R et al (1995). According to Scriver C.R et al (1995) approximately 400 million people around the world are affected, most of which are populations located around the equator. Despite the numerous disadvantages that can be caused by the disease, one of the main benefits of having the G6PD deficiency is that the enzyme deficiency provides a certain immunity/ resistance against malaria The G6PD enzyme is particularly important in red blood cells, where it protects against damage that can be caused by certain drugs or other stresses. There are a number of normal variants of G6PD, with G6PD A and G6PD B being common in Africa (Adams, M.J, l. 1983). However, abnormal mutations in the gene can lead to anemia as a result of the red blood cells breaking down in response to certain drugs or types of food, or in other situations. G6PD deficiency is not spread evenly around the world; it is particularly common in Africa and the Mediterranean, and up to 20%–25% of people in certain African regions can have the condition (Carson, P.E. 1956). Although there can be serious clinical outcomes from G6PD deficiency that result from the red blood cells being broken down, G6PD deficiency may protect against malaria. The advantage attached to the G6PD deficiency could lead to breakthrough in the medical world. If Properly engineered, the stem cells genes can be triggered in patients contaminated by malaria in order to cure the
Name: Daniel M Sop
Thesis Proposal
GENETIC MODIFICATION OF THE HUMAN X-LINKED G6PD GENE & INDUCTION OF MALARIA RESISTANT GENES VIA STEM CELLS
Abstract
Glucose-6-phosphate dehydrogenase, also known as G6PD deficiency is one of the commonly known enzymes deficiencies in the human body and metabolism. Because some G6PD patients present a form of allergy to the fava bean, G6PD is also referred to as favism. Scriver, C.R et al (1995). According to Scriver C.R et al (1995) approximately 400 million people around the world are affected, most of which are populations located around the equator. Despite the numerous disadvantages that can be caused by the disease, one of the main benefits of having the G6PD deficiency is that the enzyme deficiency provides a certain immunity/ resistance against malaria The G6PD enzyme is particularly important in red blood cells, where it protects against damage that can be caused by certain drugs or other stresses. There are a number of normal variants of G6PD, with G6PD A and G6PD B being common in Africa (Adams, M.J, l. 1983). However, abnormal mutations in the gene can lead to anemia as a result of the red blood cells breaking down in response to certain drugs or types of food, or in other situations. G6PD deficiency is not spread evenly around the world; it is particularly common in Africa and the Mediterranean, and up to 20%–25% of people in certain African regions can have the condition (Carson, P.E. 1956). Although there can be serious clinical outcomes from G6PD deficiency that result from the red blood cells being broken down, G6PD deficiency may protect against malaria. The advantage attached to the G6PD deficiency could lead to breakthrough in the medical world. If Properly engineered, the stem cells genes can be triggered in patients contaminated by malaria in order to cure the
References: Literature Cited 1) Adams, M.J, l. 1983. Crystallization of glucose-6-phosphate dehydrogenase from Leuconostocmesenteroides. Journal of Biological Chemistry 258:5867. 2) Avery, G.S. 1980. DrugTreatment. 2nd Edition, ADIS Press, New York. 3) Carson, P.E. 1956. "Enzymatic deficiency in primaquine-sensitive erythrocytes." Science 124:484. 4) Cecil, K. 1992. TextbookofMedicine. 19th ed. Philadelphia: Saunders. 5) Chen, E.Y. 1991. Sequence of human glucose-6-phosphate dehydrogenase 6) Scriver, C.R.1995. "Glucose-6-Phosphate Dehydrogenase Deficiency." In: The metabolic and molecular bases of inherited disease. 7th ed. n.p.: McGraw- Hill, Inc.:3367-98. 7) Biomems lecture from Dr Gauthier and Dr Hao Old Dominion University