The teaching is organized as follows:

Learning outcomes

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MM: BIOCHIMICA
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Basic knowledge of the structure and function of the most important biological macromolecules and of the metabolic pathways. Highlight the connections between different metabolic processes as well as the associated bioenergetics changes.
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MM: BIOLOGIA APPLICATA
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The course purposes are: •To give basic knowledge about living organism characteristic: procariots, eucariots, viruses, through the acquisition of the fundamental concepts of biology and of the structural, functional and molecular principles of cellular processes. •To provide the basic knowledge on the fundamental concepts of genetics and transmission of hereditary characters.
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MM: GENETICA MEDICA
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The Course will aim at giving the basics of human and medical genetics, in order to be able to understand the principles of transmission of normal and abnormal inherited traits, as well as the development of inherited biological variation. At the end of the course the student should be able to draw a human pedigree, to distinguish the various types of mendelian inheritance, to estimate the genetic recurrence risks of mendelian and complex disorders, to understand and interpret normal and abnormal human karyotypes, and to understand the ethical, social and medical issues relating to prenatal genetic testing.

Program

Module: BIOLOGIA APPLICATA
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•Characteristics of the living beings
•Chemistry of living organisms and biological molecules
•Prokaryotic and eukaryotic cell: organization of the cell; internal membranes and compartmentalization; organelles, characteristics and functions: nucleus, ribosomes, RER, REL, Golgi, lysosomes, peroxisomes, cytoskeleton, cell wall, extracellular matrix. Animal and plant cells. Mitochondria and plastids (chloroplasts, amyloplasts, chromoplasts) and endosymbiont theory.
•Biological membranes: structure and proposed models; passage of materials across cell membranes: passive transport (facilitated diffusion and simple), osmosis, directly and indirectly active transport, co-transport. Exocytosis and endocytosis. Anchoring, tight and gap cell junctions in animal and plant cells.
•Cell communication: types of cellular communication: endocrine, paracrine, autocrine and iuxtacrine. Sending and receiving the signal.
•Organization of DNA in chromosomes, mitosis and meiosis. DNA and proteins, nucleosomes, heterochromatin, euchromatin, chromosome condensation. The cell cycle and its regulation. Mitosis, meiosis and sexual reproduction
•DNA and its role in heredity. DNA structure and replication.
•Gene expression: transcription, genetic code and translation. Gene definition.
•DNA mutations and mutagenesis
•Hereditary character transmission and Mendel’s laws; definition of phenotype, genotype, locus, gene, dominant and recessive allele, homozygosity and heterozygosity. Segregation and independent assortment. Independence and association. Crossing-over and recombination. Genetic determination of sex. Gene interactions. Incomplete dominance, condominance, multiple alleles, epistasis and polygeny.
•The human genome: karyotype analysis and pedigrees; autosomal recessive, autosomal dominant, X-linked diseases.


Module: BIOCHIMICA
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- Carbohydrates: monosaccharides, disaccharides, polysaccharides, aldoses and ketosis, glycogen, starch, cellulose. Glycosaminoglycans, proteoglycans and glycoproteins.
- Amino acids: structure and characteristics. Proteins: structure levels of the protein, peptide bond. Proteins: alpha-helix, beta-sheet, fibrous and globular proteins (notes), myoglobin and hemoglobin (notes), allosteric regulation.
- Enzymes: classification of enzymes, active site, specificity and isozymes, cofactors and coenzymes, vitamins. Regulation of enzyme activity, allosteric enzymes.
- Lipids and their functions. Lipids: fatty acids and acylglycerols, phospholipids, terpenes, steroids, cholesterol, fat-soluble vitamins, eicosanoids, lipoproteins.
- Introduction to the metabolism: catabolism and anabolism. ATP and phosphocreatine, redox coenzymes (NAD and FAD), metabolic pathways and regulation.
- Carbohydrate metabolism: glycolysis and its regulation, the pentose phosphate pathway, and lactic fermentation.
- Synthesis of acetyl-coenzyme A, oxidative decarboxylation of pyruvate. Krebs cycle, gluconeogenesis and Cori cycle. Glycogen: glycogenolysis and glycogen synthesis (not deep). Regulating hormones (glucagon, insulin and adrenaline), diabetes mellitus (notes).
- Oxidative phosphorylation: mitochondrial respiratory chain, standard reduction potential, electron transport and proton pumps, mitochondrial ATP synthase.
- Lipid metabolism: beta-oxidation of fatty acids, ketone bodies. Biosynthesis of lipids, fatty-acid synthase. Metabolism of amino acids: transamination and urea cycle, amino acid biosynthesis (notes).


Module: GENETICA MEDICA
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Genomics, Genetics, Epigenetics
The human genome. Pedigrees. Mendelian inheritance. Non traditional inheritance.

Cytogenetics
Standard human karyotype. Anatomy of human chromosomes. Molecular cytogenetics (FISH, aCGH). Numerical and structural chromosome anomalies.

Clinical genetics and bioethics
Genetic counseling. Prenatal diagnosis. Preimplantation genetic diagnosis (PGD). Genetic testing. Stem cells and regenerative medicine. Bioethic and social issues.

Bibliography

Examination Methods

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MM: BIOCHIMICA
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Multiple choice tests.
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MM: BIOLOGIA APPLICATA
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Written test (multiple choice quiz and open questions)
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MM: GENETICA MEDICA
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Multiple choice test. 15 questions (5 answers, of which 1 correct)