Unit INTERGRATED SCIENCES OF HUMAN FUNCTIONS

BIOCHEMISTRY

Code	GP003873
CFU	2
Teacher	Tommaso Beccari
Teachers	Tommaso Beccari
Hours	20 ore - Tommaso Beccari
Learning activities	Base
Area	Scienze biomediche
Academic discipline	BIO/10
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	biochemistry
Reference texts	Introduzione alla Biochimica di Lehninger, Zanichelli edition
Educational objectives	To understand the cellular biochemistry and a focus on the metabolism of carbohydrate, Lipids, and proteins.
Prerequisites	knoweledge of Biology and organic chemistry
Teaching methods	Frontal lessons
Other information	no informations
Learning verification modality	Written exam
Extended program	Water and biological buffers - amino acids, peptides and proteins - tridimensinal strucure of proteins- protein functions - enzyme and enzyme catalysis - carbohydrates and glycobiology - monosaccharides- disaccharides and polysaccharides - nucleic acid - lipids- storage lipis - structural lipids- biological membranes - membrane transport - biosignaling - bioenergetics and metabolism- glycolisis and gluconeogensis - Krebs cycle - catabolism of fatty acids - aminoacids oxidation and urea cycle - oxidative phosphorilation - biosynthesis of carbohydrates - biosynthesis of aminoacids - hormonal regulation - protein metabolism -

APPLIED BIOLOGY

Code	GP003871
CFU	2
Teacher	Cinzia Antognelli
Teachers	Cinzia Antognelli
Hours	20 ore - Cinzia Antognelli
Learning activities	Base
Area	Scienze biomediche
Academic discipline	BIO/13
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	Prokaryotic and eukaryotic cells. Flow of genetic information within a biological system and its regulation. Cell cycle and its control. Mutations: types and causes. Reproduction of multicellular living organisms: meiosis and gametogenesis.
Reference texts	R. Roberti, G. Alunni Bistocchi, C. Antognelli, VN Talesa - Biochimica e Biologia per le professioni sanitarie - McGrawHillP. Bonaldo, S. Suga, R. Pierantoni, P. Riva, M.G, Romanelli- Biologia e Genetica - EdiSES
Educational objectives	The aim of the course is the integrated study of the cell and living organisms, with emphasis on the mechanisms involved in: organelles biogenesis and cellular structures, cell-cell interactions, cell-extracellular matrix interactions, DNA duplication, transmission of the genetic information, gene expression, cell proliferation. The ability to learn, relate and integrate one concept to another will be considered fundamental issues in order to facilitate the understanding of the disciplines provided in the subsequent years of the Degree Course.
Prerequisites	Basics of chemistry.
Teaching methods	Face-to face.
Learning verification modality	Written examination.
Extended program	The characteristics of living organisms. Biological macromolecules: proteins, lipids and glucides (general characteristics). Models of cellular organization: prokaryotes and eukaryotes. Viruses: general characteristics. Animal eukaryotic cell. Plasma membrane: structure and functions. The main mechanisms of membrane transport and cellular communication; cytoplasm; ribosomes; rough and smooth endoplasmic reticulum; Golgi apparatus; lysosomes; peroxisomes; mitochondria and the energy problem; cytoskeleton (general characteristics), nucleus and nucleolus. DNA and RNA: structure and function. Organization of chromatin, chromosomes. The eukaryotic gene. Gene expression: transcription, maturation of primary transcripts, genetic code, translation. Regulation of gene expression: general characteristics. Cell cycle: interphase, DNA replication, mitosis. Cell cycle control: check-point and CdK-cyclines. Proto-oncogenes, oncogenes and tumor suppressor. Gene mutations (point mutations, missense, nonsense, neutral mutations), genomic mutations (aneuploidy and polyploidy mutations) and chromosomal mutations (deletion, duplication, inversion, translocation). Human normal and pathological karyotype. Heterochromatinization of the X chromosome. Reproduction of multicellular organisms; meiosis and its biological meaning, gametogenesis (spermatogenesis and oogenesis).

MEDICAL GENETICS

Code	GP003872
CFU	2
Teacher	Emilio Donti
Teachers	Emilio Donti
Hours	20 ore - Emilio Donti
Learning activities	Base
Area	Scienze biomediche
Academic discipline	MED/03
Type of study-unit	Obbligatorio (Required)
Language of instruction	ITALIAN
Reference texts	GENETICA UMANA E MEDICA Fourth Edition 2017 Neri G., Genuardi M. Ed.: ESRA MASSON GENETICA MEDICA ESSENZIALE Third Edition 2012 Dallapiccola B., Novelli G. Ed. Cic
Educational objectives	Conoscere le basi biologiche dei caratteri ereditari nella specie umana. Conoscere le modalità di trasmissione dei caratteri ereditari, mendeliani e non mendeliani. Essere a conoscenza delle possibili cause di patologia genetica e dei meccanismi che intervengono nella determinazione del rapporto genotipo-fenotipo. Conoscere gli ambiti e gli obiettivi dell'intervento del genetista nella pratica medica, ivi compresi: a) la consulenza genetica, b) il calcolo del rischio riproduttivo, 3) i difetti congeniti presenti nelle principali sindromi cromosomiche d) i test diagnostici applicabili in epoca pre- e post-natale.
Teaching methods	Frontal lessons
Learning verification modality	Written test with open and multiple-choise questions
Extended program	PHYSIOLOGICAL AND PATHOLOGICAL FEATURES OF GENETIC MATERIAL IN HUMANS Part one: Structural aspects • Cytogenetics: Chromosome number and morphology in the human normal karyotype • Numerical and structural chromosome anomalies • Meiotic behaviour and gamete segregation of reciprocal translocation • Chromosome analysis beyond the microscopy resolution: the Fluorescent In Situ Hybridization (FISH) technique • The Human Genome after sequencing • Different types of germinal mutation, parent sex and age: a possible correlation with male and female gametogenesis • Molecular bases of structural chromosome rearrangements and of copy number variants (CNV) • Epigenetic clues: chromosome X inactivation and genomic imprinting • Uniparental disomy and disorders of imprinting • Mode of transmission of Mendelian traits in man • Main features of mitochondrial DNA and its relevance in matrilinear inheritance Part two: Functional aspects • Phenotypic effects of mutations: molecular explanation of Mendel’s laws • Main principles of medical genetics: pleiotropy, penetrance and genetic heterogeneity • Interaction among genes: epistasis, digenic and polygenic diseases • Environmental effect on gene expression: the multifactorial inheritance Part three: Applications to the medical practice • Genetic counselling and testing • Reproductive risk evaluation. Hardy Weinberg law application to carriers of autosomal recessive disease gene • Principles of dismorphology • Chromosome phenotypes • Genetic control of sex differentiation and main examples of derangement • Hints of prenatal diagnosis