Biochemical Perspectives of the Disease

Objectives

Based on previously acquired knowledge in biochemistry, this unit aims at allowing the students to understand that most if not all diseases are manifestations of alterations of molecules, reactions or biochemical processes in relation to the observed in the physiologic status. Furthermore, students should recognize the contribution of biochemical studies to both the diagnosis and treatment of diseases. Starting from the analysis of simple clinical cases and the description of the normal biochemical mechanisms involved, they should be able of understanding the central biochemical alterations underlying the pathology and interpreting related clinical signs and relevant biochemical parameters.

Program

1. INTRODUCCTION. Biochemistry in health and disease. The physiologic status and its shifts. Cell homeostasis. Cellular responses to stress and injurious stimulus- adaptation and cell injury/death. The major causes of diseases. Innate and acquired diseases. Environment and disease.

2. BIOCHEMICAL PERSPECTIVES IN MONOGENIC DISORDERS

2.1. Biochemical and molecular basis of monogenic disorders. 2.2. – Disorders associated with structural alterations in proteins–Sickle cell disease and thalassemias. 2.3. Disorders associated with enzyme defectsphenylketonuria. 2.4. Disorders associated with drug adverse reactions – glucose-6-phosphate dehydrogenase deficiency. 2.5. Disorders associated with defects in receptor proteins–familial hypercholesterolemia.

3. BIOCHEMICAL PERSPECTIVES IN COMPLEX DISORDERS–Atherosclerosis. Diabetes.

Teaching Methodologies

In the lectures (with support of Power-Point projections and where students are asked to participate), the main biochemical aspects involved in cell and organism homeostasis are presented, in order to allow the comprehension of the shifts to the physiologic status observed in the disorders selected as examples to be discussed. Students are also asked to answer small questionnaires during the exposition.

Bibliography

Murray, R.K., Bender, D.A., Botham, K.M., Kenelly, P.J., Rodwell, V.W. and Weil, P.A (2012) Harper’s llustrated Biochemistry, 29th Ed., McGraw Hill, New York.

Devlin, T.M. (2007) Textbook of Biochemistry with Clinical Correlations, 6th Ed., Wiley-Liss, USA.

Kumar,V., Abbas, A. and Fausto, N (2005) Robins and Cotran Pathologic Basis of Disease, 7ª Ed, Elsevier Saunders

Artigos selecionados