Molecular genetics affective disorders

Diseases result from genetic factors and from the deleterious effects of things in the environment, from microbes, trauma, violence, or deficient diets. They often involve abnormalities in molecular processes affected by both genetic and environmental factors. Diseases, including heart disease, diabetes, cancer, mental illnesses, and age-related disorders, are complex, influenced by many different genes, that affect many processes. 

DNA analysis has become an invaluable tool having very many practical applications that aim to open new frontiers in science. The sequencing of the human genome will provide information that could be applied to the study of genetic disorders as well as complications affecting the behaviour of humans at molecular level. 

Pyruvate carboxylase (also called PC) is an enzyme that converts pyruvate to oxaloacetate (shown as oxaloacetic acid in the citric acid cycle diagram). Pyruvate carboxylase deficiency is a genetic disorder that is characterized by insufficient quantities of pyruvate carboxylate in the body. How do you think this disorder affects the citric acid cycle Use print and electronic resources to research pyruvate carboxylase deficiency. Find out what its symptoms are, and how it affects the body at the molecular level. Also find out what percent of the population is affected, and how the deficiency can be relieved. Present your findings as an informative pamphlet. If possible, conduct an e-mail interview with an expert on the disorder. 

Tall A, Breslow J, Rubin E (2000) Genetic disorders affecting high density lipoproteins. In Scriver C, Beaudet A, Sly E, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill, New York, pp 2915-2936... 

---