Cells, molecules and genes 2

A.Y. 2019/2020
Overall hours
BIO/10 BIO/13 MED/03
Learning objectives
Cells Molecules and Genes 2 is an integrated course devoted to understand the biochemical processes and inheritance mechanisms supporting life. The course includes a Biochemistry module and a Human and Medical Genetics module, and addresses the bio-molecular diversity, function and turnover in human cells and the genetic basis of inherited diseases. Lectures will be focused on cellular metabolism and energy relationships, regulation and interconnections of metabolic pathways, as well as on mechanisms of inheritance, and principles of genetics as they apply to medicine. The topics of the course will be presented in a conceptual and methodological framework largely shared by modern Human Biochemistry, and Genetics to promote interdisciplinary thinking in the medical field.
Expected learning outcomes
By the end of this course, students will be able to:
-describe the inheritance mechanisms and the metabolic processes supporting human life
-demonstrate a mastery of core concepts and principles in human and medical genetics and in medical biochemistry
-demonstrate critical thinking skills, such as the ability to resolve problems that occur in the field as they relate to medical issues
-integrate knowledge and explain how genetic and metabolic dysfunctions may lead to disease/lethality
Course syllabus and organization

Single session

Prerequisites for admission
To take the Cells, Molecules and Genes2 exam, students must have already taken the Fundamentals of Basic Sciences and the Cells, Molecules and Genes 1 exams.

For the Genetics modules, it is assumed that students have a good understanding of basic genetics. The self-study programme includes the following topics: Mendelian genetics: Mendel's Laws of Heredity, probability of inheritance and Punnett Squares, alleles and genes, dominant and recessive alleles, homozygous and heterozygous definitions. The basic rules of probability: the Sum and Product.
If students would like to brush up on genetics terminology, we suggest visiting the websites http://www.genome.gov/Education/ (National Human Genome Research Institute) and http://biology.about.com/od/basicgenetics/a/aa071705a.htm, or consulting the book 'Essential Genetics' by P. Russell., Cummings Ed.
Students are encouraged to perform a self-examination test (multiple choice) before the course to check whether their basic knowledge in genetics is sufficient to successfully meet the course programme.
Assessment methods and Criteria
Students' evaluation is assessed through a written and an oral examination.
The exams deal with all the topics and activities developed during the semester (lectures, PBL and assigned readings).
In the written examination, exam questions are multiple choice, with 33 questions/exam. The threshold scores for passing the multiple-choice test is 55% of each of the corresponding modules (Biochemistry, Human and Medical Genetics) corresponding to 18/33 on the whole.
Only students that have successfully passed the written test are eligible for the oral exam. In case of failure of the oral exam, the written test is kept valid for 1 year.
The final mark is the weighted average of the marks obtained in the three oral examinations (Biochemistry, Human Genetics and Medical Genetics) weighted for the number of credits of each module (5; 4 and 2, respectively).
The exam is deemed to be passed successfully if the final grade is equal to or higher than 18/30. In the event of a full grade (30/30) honors (lode) may be granted with the consent of all the teachers.
Registration to exams through the SIFA system is mandatory.
Course syllabus
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. Cellular nutrients. Fundamentals of nutritional biochemistry.
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. Reactive oxygen species in health and disease. Production and effects of reactive oxygen species (ROS)
Lecture 13. The sweet side of catabolism: carbohydrates as cellular fuels. Carbohydrate digestion. Glucose phosphorylation and metabolic fates. Anaerobic and aerobic glycolysis.
Lecture 14. Control mechanisms of glucose degradation. Glycolysis control and roles
Lecture 15. The ins and outs of glucose metabolism. Metabolism and control of fructose and galactose metabolism. Mechanism and rational of the pentose phosphate pathway.
Lecture 16 Glycogen store. Glycogen properties and function. Metabolism and regulation of glycogen.
Lecture 17. Lipid digestion and 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 18. Lipids as fuel. Fatty acid oxidation and metabolism of ketone bodies.
Lecture 19. Fat store. Triacylglycerols properties, location and function. Metabolism of triacylglycerols and its control.
Lecture 20. There is more to lipids than just being fat. Overview of lipid functions. Mechanisms and control of cholesterol homeostasis.
Lecture 21. Where do amino acids come from? Digestion and absorption of proteins. Metabolic origins of aminoacids.
Lecture 22. The complex and key potential of cellular amino acids. Metabolic fates of amino acids and gluconeogenesis.
Lecture 23. 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 24. Metabolic interrelationships and cooperation between cells. Blood glucose homeostasis and effects of its deregulation.
During the module
· Discussion lectures with case studies
· Practical activities: "Reactive oxygen species in the lab". These activities will include cell culture techniques, stimulation and evaluation of ROS formation in cultured cells.
Teaching methods
· Lectures
· Small Group Activities
· Case studies
· Practical activities
Teaching Resources
· Devlin T.M. Textbook of biochemistry with clinical correlations. 7th ed. revised, 2019.
· Lieberman M. and Marks A. "Marks' basic medical biochemistry: a clinical approach" 5th ed. Lippincott Williams & Wilkins, 2018.
· Baynes J., Dominiczak M.H. Medical biochemistry. 5th edn, 2018, Elsevier
Course syllabus
Lectures 1 to 5. Mechanisms of inheritance. How genetic traits are inherited. The applications of Mendelian laws in monogenic inherited diseases
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
2 PBLs: The clinical manifestations of a common mendelian diseases: investigations of family
Teaching methods
· Lectures
· Small Group Activities
· Case studies
· Practical activities
Teaching Resources
· Thompson & Thompson Genetics in Medicine" 8th ed., Elsevier, 2015
Course syllabus
Lecture 1. Mitosis, meiosis and ploidy cycles. Chromosome behaviour during cell cycle in somatic and germinal cells.
Lectures 2-3-4-5. Cytogenetics and clinical cytogenetics. The Karyotype description. The chromosomal abnormalities and their importance in the phenotype and reproductive risk.
Lecture 6. Sex determination and X-linked gene dosage compensation. The genetics of sex determination and the more frequent genetic anomalies associated with incomplete sexual differentiation. How do male and female compensate X-linked gene dosage?
Lecture 7. Atypical mechanisms of inheritance: genetic imprinting. An atypical Mendelian inheritance pattern involving gene subjected to genomic imprinting. How the imprinting works: examples of imprinted gene clusters. Defects of genomic imprinting, Uniparental disomies (UPD) and imprinting diseases: PraderWilli/Angelman syndromes and Silver Russell/Beckwith-Weidemann syndromes.
Lecture 8. Gene testing and genetic counselling. The main classes of gene testing and methods to perform them. The importance of genetic counselling in genetic testing procedures
Practical 1. Clinical Cytogenetics.
Teaching methods
· Lectures
· Small Group Activities
· Case studies
· Practical activities
Teaching Resources
· Thompson & Thompson Genetics in Medicine" 8th ed., Elsevier, 2015
BIO/10 - BIOCHEMISTRY - University credits: 5
Practicals: 16 hours
Lessons: 48 hours
Group 1
Professor: Chiricozzi Elena
Group 2
Professor: Chiricozzi Elena
BIO/13 - EXPERIMENTAL BIOLOGY - University credits: 4
Practicals: 8 hours
Lessons: 30 hours
Problem Based Learning: 12 hours
Professor: Marozzi Anna
MED/03 - MEDICAL GENETICS - University credits: 2
Practicals: 8 hours
Lessons: 18 hours
Professor: Finelli Palma