Teaching code

4S000166

Credits

6

Coordinator

Elisabetta Trabetti

Language

Italian

Location

VERONA

Moodle Seminars 0

The teaching is organized as follows:

Learning outcomes

The whole Course aims to provide basic knowledge of biochemistry, cell biology, human and medical genetics, preparatory for further advanced topics. Teaching is intended to provide:
- basic knowledge of general and organic chemistry preparatory for biochemistry
- structure-function relationship of the most important biological macromolecules and of the metabolic regulation at the molecular level
- cross-talk between the different biochemical pathways and the energy level changes associated
- structural, functional and molecular characteristics of living organisms, in an evolutionary view
- knowledge of the fundamental concepts of genetics and transmission of hereditary characters in humans
- knowledge for understanding and interpret human karyotypes and the ethical, social and medical issues relating to prenatal genetic testing.
- knowledge to draw a human pedigree, to distinguish the various types of mendelian inheritance, to estimate the genetic recurrence risks of mendelian and complex disorders
- knowledge to understand and interpret normal and abnormal human karyotypes
- knowledge to understand the ethical, social and medical issues relating to prenatal genetic testing.
At the end of the Course, students should demonstrate to have acquired the knowledge necessary for a critical analysis of the biochemical processes of life in order to be autonomous in the evaluation of the mentioned processes. Students should also demonstrate to have acquired the knowledge of basic mechanisms which regulate intra/intercellular activities, cellular interactions and reproduction, and cause mutations. They should also demonstrate to be familiar with Mendelian genetics and particularly with pathologic traits in humans. They should also be able to draw a human pedigree, 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.
Moreover, students should demonstrate their capability to expose reasoning in a critical and precise manner using appropriate scientific terms.

Program

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MM: BIOCHIMICA
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- Structure and function of proteins: amino acids; peptide bond; structural levels of proteins; fibrous proteins and globular proteins; hemoglobin and myoglobin; hemoglobin variants; classification, function and regulation of enzymes. - Bioenergetics: metabolism, chemical transformations in the cell; thermodynamics; ATP as energy exchanger; oxidation/reductions. - Structure and metabolism of carbohydrates; mono- and disaccharides; polysaccharides; glycolysis and its regulation; gluconeogenesis; penthose phosphate pathway; structure, function and metabolism of glycogen. - AcetylCoA. Citric acid cycle; electron transport chain and oxidative phosphorylation; ATP synthesis. - Structure and metabolism of lipids: structural lipids and biological membranes; lipids transport; lipids digestion and fatty acids beta-oxidation; hints on fatty acids biosynthesis - Amino acid metabolism; transamination and oxidative deamination; urea cycle; metabolism of the carbon chain. The frontal teaching is the exclusive method adopted in this Course.
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MM: 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. DIDACTIC METHOD Attendance to lessons is mandatory. Teaching methods consist of frontal lessons. In addition to the suggested texts, additional didactic supports are offered on the e-learning platform of the course. Students can make an appointment directly with the teacher every time they need it throughout the academic year, by email.
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MM: GENETICA MEDICA
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Programme Human genetics and epigenetics. Pedigrees. Mendelian inheritance of human traits. Non traditional (non mendelian) inheritance.Genetic Imprinting, Uniparental disomy. Triplet expansion disease

Bibliography

Examination Methods

Goal of the exam for the Course of Biological and biochemical sciences: to verify students' advanced comprehension of the whole program topics and their capability to expose their reasoning in a critical and precise manner using appropriate scientific terms.
6 examination appeals are foreseen in the whole Academic Year: 2 in the Winter Session after the Course ending, 2 in the Summer Session, and 2 in the Autumn session.
Students can sit an exam if they have attended at least 75% of the frontal teaching activity of the entire teaching. They will undertake three modules (written tests made of multiple choice quizzes and open questions); further information about exam organization is available in each module form. The final mark (/out of 30) will derive from the evaluation of the three modules. Students will pass the examination if the overall rating of all modules, based on the weighted average of credits, is greater than or equal to 18/30. Students can retire or refuse the proposed mark.

Students who do not pass all three exam modules in the same session will only have to cover the missing/insufficient part in one of the subsequent sessions, if only within the same Academic Year (that is within the Autumn session). From the next winter session students will need to take all three modules.