Learning objectives
The aim of this course is to give the student the ability to:
- acquire the basic principles of biological sciences and methods;
- understand the correlation between structure and function at the different organizational levels;
- acquire knowledge and understanding of the chemical and structural properties of the major molecules of biological interest;
- acquire knowledge of the fundamentals of cellular energy metabolism;
- acquire knowledge of the fundamentals of enzymatic catalysis, its regulation, and major metabolic pathways.
Moreover, this course is for the knowledge and comprehension of mechanisms of genetic characters inheritance and to their future specific professional application.
At the end of this course the student should have a good knowledge and comprehension of the following topics:
- mechanisms of transmission of mendelian traits and the relative physical and molecular basis;
- mechanisms of transmission of quantitative characters of common traits and gene environment interaction;
- mechanisms of the most frequent chromosomal mutations;
- mechanisms of the most frequent molecular diseases.
Prerequisites
No
Course unit content
The purpose of this course is to give a general overview of biological and genetic concepts and cell metabolism fundamentals to gain an appreciation of the importance that biology plays in understanding human health.
Moreover, this course also focuses on: mechanisms of genetic characters inheritance, starting from the seminal experiments of Mendel and Morgan, their physical basis (chromosomal theory of inheritance) and their extension to the man; single gene inheritance and multi factorial inheritance of common characters; definition of gene and how it works and how is work is regulated, on applications of genetics to medicine.
Full programme
BIOLOGY
1. The Nature of science and biology: methods and organizing concepts. The unifying principle of biology: The Theory of Evolution. Darwinian Medicine. Origins and evolution of life on Earth
2. Cell Biology. Procaryotic and Eucaryotic cell. The cell cycle and reproduction: mitosis and meiosis. Male and female gametogenesis and their hormonal regulation.
3. The modern evolutionary synthesis. Microevolution and its causes. The origins of species. Evolution of Vertebrates and the rise of Hominids. The evolution and genetics of language in Hominids.
4. Biological basis of human behavior. Genes, environment and their interaction. Nature and Nurture. Imprinting and the attachment theory. Evolutionary Psychology.
BIOCHEMISTRY
A) INTRODUCTION: fundamentals of organic chemistry.
B) STRUCTURAL BIOCHEMISTRY
Carbohydrates. Structure and classification of monosaccharides. The glycosidic bond, disaccharides. Homopolysaccharides: starch and glycogen. Amino acids: structural properties and classification. Peptides and proteins: the peptide bond and its characteristics. Protein structure: primary, secondary, tertiary and quaternary structure. Conformation and function of proteins. Lipids: classification, structure and function of fatty acids, triglycerides and cholesterol. Biological membranes: the lipid bilayer and membrane proteins. Nucleotides and nucleic acids.
C) GENERAL AND METABOLIC BIOCHEMISTRY
Hemoglobin: structure and function. Molecular mechanism of O2 transport. Factors that change the affinity for O2.
Enzymatic catalysis. Active site, specificity. Nature of enzymes and their classification.
Free energy and spontaneity of reactions. The thermodynamics of biological reactions, ATP as an energy carrier.
Cellular metabolism. Oxidation and degradation reactions, biosynthesis reactions.
Mitochondrial bioenergetics. Coenzymes and biological oxidation-reductions. The respiratory chain: components and functions. Mechanism of oxidative phosphorylation.
The metabolism of carbohydrates. Glycolysis, energy balance and regulation. The fate of pyruvate in aerobic and anaerobic conditions. The Krebs cycle. Gluconeogenesis. Glycogen metabolism. Hormonal control of glucose metabolism by adrenaline, glucagon and insulin. Lipid and protein metabolism in brief.
GENETICS
The genetic bases of human diseases.
Mendel Laws of inheritance and their applications.
The human chromosomes and their numerical and structural abnormalities.
The structure of the human genome.
DNA mutations: classification, main features and effects.
Genetics of deafness.
Bibliography
Biochimica Essenziale
Gabriele D'Andrea
Editore: EdiSES
Novelli G - Giardina E : Genetica medica pratica, Aracne editrice, Roma
Teaching methods
The course will be held through lectures on-site.
The lectures will be in an interactive format and students will be strongly encouraged to ask questions and insert comments.
Assessment methods and criteria
Multiple choice test and open questions.
The final grade is the average of the three modules' grades.
Other information
- - -
