Cells, molecules and genes 2

Program of the form:
· Lecture 1. The complex and dynamic world of human cells. Overview of cellular biochemistry.
· Lecture 2. Compartmentalize to function. Mechanisms and properties of cell compartmentalization. Dynamic organization and functional properties of cellular membranes.
· Lecture 3. The work of crossing membranes: players and control. Molecular mechanisms of passive and active transport across cellular membranes.
· Lecture 4. Strategies for information transfer through cell membranes. Biochemistry of hormones.
· Lecture 5. Speeding up cellular reactions. Principles of metabolic control. Enzyme properties.
· Lecture 6. Regulating cellular reactions. Enzyme control in cell homeostasis. Medical implications of enzymes.
· Lecture 7. Cellular metabolism and strategies for energy transfer and use.
· Lecture 8. Cell nutrients. Fundamentals of nutritional biochemistry: nutrient functions and requirements.
· Lecture 9. A key cycle for multiple roles: the tricarboxylic acid cycle. Bioenergetic and mitochondrial functions: mechanisms and regulation.
· Lecture 10. The respiratory chain: a strategy to recover energy. The mitochondrial electron transport chain functioning and control.
· Lecture 11. The rotating molecular motor: ATP synthase. Mechanisms and regulation of oxidative phosphorylation. Structure, mechanism, and properties of ATP synthase.
· Lecture 12. The sweet side of catabolism: carbohydrates as cellular fuels. Carbohydrate digestion. Glucose phosphorylation and metabolic fates. Anaerobic and aerobic glycolysis.
· Lecture 13. Control mechanisms of glucose degradation. Glycolysis control and roles
· Lecture 14. The ins and outs of glucose metabolism. Overview of metabolic origin and fates of glucose. Metabolism and control of fructose and galactose metabolism. Mechanism and rational of the pentose phosphate pathway.
· Lecture 15 Glycogen store. Glycogen properties and function. Metabolism and regulation of glycogen.
· Lecture 16. Lipid digestion and inter-organ transport. Biochemistry of lipid digestion and absorption. Mechanisms of transport of simple and complex lipids in blood and lymph. Lipoprotein structure, dynamic and metabolism.
· Lecture 17. Lipids as fuel. Fatty acid oxidation and metabolism of ketone bodies.
· Lecture 18. Fat store. Triacylglycerols properties, location and function. Metabolism of triacylglycerols and its control.
· Lecture 19. There is more to lipids than just being fat. Overview of lipid functions. Mechanisms and control of cholesterol homeostasis.
· Lecture 20. Where do amino acids come from? Digestion and absorption of proteins. Special roles of aminoacids and important metabolites derived from them.
· Lecture 21. The complex and key potential of cellular amino acids. Metabolic fates of amino acids and gluconeogenesis.
· Lecture 22. Nitrogen balance, ammonia transport and excretion. Nucleotide metabolism. Molecular mechanisms of ammonia formation, transport and excretion. Nitrogen balance. Overview of nucleotide metabolism and connections with that of amino acids.
· Lecture 23. Metabolic interrelationships and cooperation between cells. Blood glucose homeostasis and effects of its deregulation.
· Discussion lectures and practical activities

During the module
· discussion lectures with case studies (2 hours)
· practical activities:

Program of the form:
· Lecture 1. Extensions of Mendelian Genetic Analysis
· Lectures 2 and 3. Patterns of Single Gene Inheritance
· Lectures 4 and 5. Complications to the basic mendelian pedigree patterns
· Lectures 6-7. Human genetic variation. Relationship between mutation/ polymorphisms and phenotype.
· Lectures 8. Dynamic Mutation. Describe the concept of triplet repeat diseases and the correlation between earlier manifestations of clinical symptoms ('anticipation') and molecular pattern.
· Lecture 9. Population Genetics. Genetic variability in a population: genotypic and allele frequencies. A simplified description of allele assortment at reproduction: the gene pool. The Hardy-Weinberg law (HWL) of allelic and genotypic frequencies, the Hardy-Weinberg equilibrium (HWE), and the conditions for their validity. Factors causing evolution of a population (changes of allelic frequencies over generations) equal to violations of the Hardy-Weinberg postulates.
· Lecture 10. Complex disorders. Analysis of genetic principles involved in diseases with multifactorial inheritance
· Lectures 11-12. Mapping genetic disorders. Discussing how geneticists go about discovering the particular genes implicated in disease and the variants they contain that underlie or contribute to human diseases
· Small groups activities (4 hours)
· 2 PBLs: The clinical manifestations of a common mendelian diseases: investigations of family.

Program of the form:
· Lecture 1. Extensions of Mendelian Genetic Analysis
· Lectures 2 and 3. Patterns of Single Gene Inheritance
· Lectures 4 and 5. Complications to the basic mendelian pedigree patterns
· Lectures 6-7. Human genetic variation. Relationship between mutation/ polymorphisms and phenotype.
· Lectures 8. Dynamic Mutation. Describe the concept of triplet repeat diseases and the correlation between earlier manifestations of clinical symptoms ('anticipation') and molecular pattern.
· Lecture 9. Population Genetics. Genetic variability in a population: genotypic and allele frequencies. A simplified description of allele assortment at reproduction: the gene pool. The Hardy-Weinberg law (HWL) of allelic and genotypic frequencies, the Hardy-Weinberg equilibrium (HWE), and the conditions for their validity. Factors causing evolution of a population (changes of allelic frequencies over generations) equal to violations of the Hardy-Weinberg postulates.
· Lecture 10. Complex disorders. Analysis of genetic principles involved in diseases with multifactorial inheritance
· Lectures 11-12. Mapping genetic disorders. Discussing how geneticists go about discovering the particular genes implicated in disease and the variants they contain that underlie or contribute to human diseases
· Small groups activities (4 hours)
· 2 PBLs: The clinical manifestations of a common mendelian diseases: investigations of family.