Medicine and Surgery

ROBERTO CARNEVALE
ROBERTO CARNEVALE
VITTORIA CAMMISOTTO
VITTORIA CAMMISOTTO

Based on the attachments to Ministerial Decree no. 418 of May 30, 2025, the syllabus for this course is uniform nationwide and has the following general objectives:

The Biology course aims to provide students with a solid and integrated understanding of the fundamentals of biology, which is essential for understanding the physiological and pathological processes addressed in subsequent courses in the biomedical field.

General Course ObjectivesThe teaching of Biology aims to provide students with a solid and integrated preparation on the fundamentals of biology, which is an essential basis for understanding physiological and pathological processes, addressed in subsequent teachings in the biomedical area.Specific Course ObjectivesKnowledge and UnderstandingAt the end of the course, the student will be able to:• Describe the structure and function of the main biological macromolecules and understand the molecular bases of living matter• Understand cellular organization and compartmentalization, intracellular trafficking, and interactions between cells and the external environment• Illustrate the molecular and cellular mechanisms that regulate gene and epigenetic information expression and transmission, identifying their implications in hereditary diseases. Illustrate the fundamentals of cellular communication and signal transduction, with particular attention regarding the control of proliferation and cell death, as well as the processes that regulate mitosis and meiosis in germ cells. Ability to apply knowledge and understanding: At the end of the course, the student will be able to:  Apply the acquired knowledge to understand normal and pathological cellular processes relevant in the medical field  Interpret experimental data related to the structure and function of the cell and its various components, gene regulation, and intracellular and intercellular signaling mechanisms  Utilize this knowledge and the acquired methodological approaches for future studies in the biomedical field. Autonomy of judgment: At the end of the course, the student will be able to: 1. critically evaluate information 2. form informed opinions 3. make independent decisions. Communication skills: At the end of the course, the student will be able to: 1. clearly and effectively express their information and knowledge.

https://www.uniroma1.it/it/pagina/semestre-aperto-guida-alla-frequenza-dei-corsi

Teaching Unit 1 – Foundations of the Biological and Molecular Organization of Life (Teaching workload: 0.75 CFU)
The tree of life. Organisms and the cell theory. Fundamental properties of living matter. Darwin’s theory of evolution and the One Health principle.
Viruses: General features. Nucleic acid, capsid, and membrane envelope. The six classes of animal viruses. The lytic and lysogenic cycles of a bacteriophage. The replication cycle of an animal virus and of a retrovirus. Mechanisms of viral entry and release from animal cells. DNA and RNA oncogenic viruses.
Prokaryotic cell: Plasma membrane, cell wall, outer membrane, capsule, fimbriae and pili, flagella. Gram-positive and Gram-negative bacteria (Gram staining). Eubacteria and Archaea. Basic mechanisms of horizontal gene transfer.
Eukaryotic cell: The endomembrane system. Origin of the nucleus; endosymbiosis and the origin of mitochondria. From unicellular to complex multicellular organisms.
Chemical foundations of life: Biologically relevant atoms and molecules. Polar and nonpolar molecules. Properties of water. Covalent and noncovalent bonds. Functional groups.
Structure and function of biological macromolecules: Sugars and carbohydrates. Lipids. Nucleotides and nucleic acids. The Watson and Crick model and the DNA double helix. RNA structure and functions. Coding and non-coding RNAs. Amino acids, peptide bonds, and proteins. Overview of protein structure, domains, and motifs. Main post-translational modifications (e.g. phosphorylation, acetylation, glycosylation, lipidation). Overview of enzymes and their mechanisms of action.
Basics of metabolism: Concepts of anabolism and catabolism, condensation and hydrolysis reactions.

Teaching Unit 2 – Cellular Mechanisms for the Transmission and Control of Genetic and Epigenetic Information (Teaching workload: 0.5 CFU)
The nucleus and the genome of eukaryotic cells: Linear chromosomes, the human karyotype, diploidy and homologous chromosomes. Basic organization of a eukaryotic chromosome. Centromeric and telomeric DNA.
Chromatin: Nucleosomes, DNA packaging, histone proteins, histone H1 and the 30 nm fiber. Euchromatin and heterochromatin. DNA methylation, chromatin remodeling, histone post-translational modifications and epigenetics (example: acetylation). Condensins and chromatin folding.
The human genome: Overview of its organization and types of sequences. Single-copy sequences, gene families (e.g. globins, rRNA), repeated sequences, tandem repeats (minisatellites, microsatellites), interspersed repeats (LINEs, SINEs, endogenous retroviruses). Mobile DNA elements.

Teaching Unit 3 – The Flow of Genetic Information (Teaching workload: 1.0 CFU)
DNA replication in prokaryotes and eukaryotes: Semiconservative mechanism. Origins of replication, initiation complex, and replication fork. DNA unwinding (helicases and topoisomerases). Primase and replication initiation. DNA polymerases and proofreading activity. Continuous and discontinuous strands, Okazaki fragments, RNA removal and DNA ligase. Telomeres and telomerase function. Telomeres and replicative senescence.
Genes: Definition and structure of prokaryotic and eukaryotic genes. Polycistronic and monocistronic genes. Promoters and cis-regulatory elements.
Transcription in prokaryotes: Overview and the Lac operon model.
Control of gene expression in eukaryotes: Transcriptional, post-transcriptional, translational, and post-translational regulation.
Transcription in eukaryotes: RNA polymerases I, II, and III. General transcription factors, the TATA box, proximal and distal promoters (enhancers and silencers). Specific transcription factors (example: steroid hormone receptors). Initiation, elongation, and termination of transcription.
RNA processing: Capping, polyadenylation, splicing and alternative splicing. The spliceosome and snRNAs. Ribozymes. RNA editing. Regulation of mRNA stability (deadenylation, decapping, miRNAs, and RNA interference).
Protein synthesis: The mechanism of translation. Components: mRNA, rRNA, and tRNA. Aminoacyl-tRNA synthesis. Ribosomes, synthesis and maturation of rRNA and tRNA. Genetic code (codons, anticodons, redundancy, degeneracy, non-ambiguity, universality). Initiation, elongation, and termination factors.
Protein maturation: Importance of proper protein folding. Chaperone proteins. Protein misfolding and prion diseases.
Regulation of protein activity: Protein degradation. Ubiquitin-dependent proteasomal degradation and ubiquitin-like proteins.

Teaching Unit 4 – Cellular Mechanisms for Transmission and Control of Wild-Type and Mutant Traits (Teaching workload: 0.75 CFU)
Genome variations: Substitution, insertion, or deletion of nucleotides. Gene and chromosomal mutations. Expansion of repeated sequences. Overview of DNA repair mechanisms for single- and double-strand breaks. Correlation with cellular aging.
Alleles: Homozygosity, heterozygosity, compound heterozygosity. Dominance and recessiveness. Genotype and phenotype. Mendel’s laws: single traits, segregation, independent assortment. Incomplete dominance, codominance, multiple alleles (e.g. ABO blood system), pleiotropy, epistasis (non-Mendelian ratios), complete and incomplete linkage. Physical and genetic maps. Pedigree analysis.
Gene–environment interaction: Penetrance and expressivity, polygenic traits, quantitative inheritance, genomic imprinting.
Human chromosomes and karyotype: Banding techniques. Euploid karyotype. Numerical (aneuploidy, polyploidy) and structural (translocations, inversions, deletions, insertions) chromosome abnormalities. Example: trisomy 21. Modes of inheritance: autosomal dominant and recessive, X-linked dominant and recessive, Y-linked, and mitochondrial inheritance.

Teaching Unit 5 – Cellular Structures: Biogenesis, Morphology, and Functions (Teaching workload: 1.5 CFU)
Membranes and components: Fluid mosaic model, glycocalyx importance, membrane asymmetry.
Membrane transport: Osmosis, diffusion, passive transport, channels and transporters, active transport (e.g. ABC transporters, Na⁺/K⁺ pump), membrane potential and action potential.
Protein sorting: Cellular compartments and their topological relationships. Targeting signals. Transport through nuclear pores, translocons, or vesicles.
Nucleus: Nuclear envelope, nucleolus, nuclear pores, nucleoporins. Nuclear transport, localization and export signals, importins, exportins, Ran, RanGEF, RanGAP. Regulation of nuclear import (examples: steroid hormone receptor, NF-κB, SREBP1). RNA export from nucleus to cytosol.
Mitochondria: Structure and functions. Mitochondrial genome and gene expression. Overview of cellular respiration (from glycolysis to the electron transport chain and ATP synthesis), molecules involved, and energy balance. Mitochondrial network dynamics (fusion, fission, regulatory proteins). Protein import into mitochondria: targeting signals, TOM, TIM, SAM, and OXA translocases. Energy role in protein import into mitochondrial matrix, outer and inner membranes, and intermembrane space.

Peroxisomes: Structure and functions. Protein import signals and receptors. Peroxisome biogenesis and peroxins. Detoxifying role of peroxisomes. Peroxisomal disorders (e.g. Zellweger syndrome).
Secretory pathway: Smooth and rough ER, cis-Golgi network, Golgi apparatus, trans-Golgi network. Protein targeting to the ER (signal sequence, SRP and receptor, translocon, signal peptidase). Protein modifications in the ER (glycosylation, folding via calnexin/calreticulin, quality control). UPR response and ERAD system (example: cystic fibrosis). Constitutive and regulated secretion.
Vesicular trafficking: Vesicle formation, coat proteins, docking and fusion (NSF, SNAPs, SNARE, RAB). Role of phosphoinositides.
Endocytosis: Fluid-phase and receptor-mediated endocytosis. Examples: transferrin, LDL, and EGF pathways. Early and late endosomes, multivesicular bodies, lysosomes. Lysosomal targeting (mannose-6-phosphate). Lysosomal storage diseases. Endocytosis in polarized cells, transcytosis (e.g. immunoglobulins), and phagocytosis.
Autophagy: Macroautophagy, microautophagy, chaperone-mediated autophagy. Example: mitophagy. Consequences of autophagy defects.
Cytoskeleton:
Microtubules: Structure, polymerization dynamics, GTP role, centrosome, γTuRC complex, MAPs, dyneins, kinesins, and related disorders. Cilia and flagella.
Microfilaments: Actin structure and dynamics, ATP role, Arp2/3 complex, accessory and linking proteins (e.g. dystrophin), myosins, sarcomere structure. Regulation by Rho family proteins (Rho, Rac, CDC42). Cell migration and neutrophil chemotaxis.
Intermediate filaments: Structure, polymerization, functions. Keratins and nuclear lamina. Connections between cytoskeleton and nucleoskeleton.

Teaching Unit 6 – The Cell and Its Environment: Cell Signaling and Signal Transduction (Teaching workload: 0.75 CFU)
Extracellular matrix: Structure, functions, degradation, cell anchoring via integrins, mechanotransduction, and cytoskeletal connections (example: fibronectin).
Cell–cell communication: Cell recognition and tissue formation (cadherins and CAMs). Types of cell junctions: tight junctions, adherens junctions, desmosomes, hemidesmosomes, and gap junctions.
Signaling types: Contact-dependent, autocrine, paracrine, endocrine, and synaptic signaling. Signal transduction components and cascades. Surface and intracellular receptors. Examples: nitric oxide and lipid hormones. Ion channel–linked receptors.
G protein–coupled receptors (GPCRs): Monomeric and trimeric G proteins, regulatory proteins (GEFs and GAPs), second messengers, and signal amplification. Receptor desensitization (example: vision).
Enzyme-linked receptors: Receptor tyrosine kinases, Ras–MAP kinase pathway, oncogenes and signal transduction. Insulin and EGF receptor signaling. Phosphoinositide signaling.

Teaching Unit 7 – Control of Cell Proliferation and Survival (Teaching workload: 0.75 CFU)
Cell cycle: Phases and checkpoints. Cyclins, cyclin-dependent kinases (CDKs) and regulation. Mitosis phases, chromatin condensation, spindle formation (astral, kinetochore, interpolar microtubules), mitotic motor proteins, nuclear lamina disassembly, organelle dynamics, NDC80 complex, chromosome movement.
Mitotic completion: APC/C (anaphase-promoting complex), degradation of cyclins and securin, chromatid separation, cytokinesis, asymmetric mitosis.
Entry into S phase: Role of growth factors, cyclin D–Cdk4/6 complex, Rb phosphorylation, E2F activation, Rb in retinoblastoma, CDK inhibitors. DNA damage and p53 activation for repair or apoptosis. Proto-oncogenes, oncogenes, and tumor suppressor genes.
Germ cells: Molecular mechanisms of meiosis, genetic consequences, crossing over, differences between mitosis and meiosis, causes of aneuploidy. Meiosis in human spermatogenesis and oogenesis. Concept of stem cells.
Cell death: Necrosis and apoptosis. Intrinsic and extrinsic apoptotic pathways. Initiator and effector caspases. MOMP, cytochrome c, and apoptosome. Pro- and anti-apoptotic proteins (BCL2 family). Death receptors and associated signaling pathways.

Molecular Biology of the Cell (suitable for the filter semester). Alberts. Zanichelli
Essentials of Molecular Biology of the Cell (suitable for the filter semester). Alberts. Zanichelli
The World of the Cell. Becker. Pearson
Genetics. A Molecular Approach - 6th edition (2024) - Russell PJ - Pearson
Biology and Genetics. Alessandro et al., Edises
The Cell: A Molecular Approach. Cooper, Piccin
Genetics - 2nd edition (2016) - Pierce BA - Zanichelli
Genetics. Principles of Formal Analysis - 8th edition (2021) - Griffiths et al. – Zanichelli
Cellular and Molecular Biology. Karp. Edises

https://elearning.uniroma1.it/course/view.php?id=19838

The lecturer delivers classroom teaching in the traditional manner, using audiovisual aids and scheduling lessons as indicated on the GOMP Classroom/Timetable System and published on the degree programme and faculty websites.

In accordance with the programme's teaching regulations, students are required to attend all teaching and professional development activities. Attendance is monitored by the University via a computerised system. Students must provide proof of attendance at compulsory teaching activities in order to sit the relevant examination.

The course assessment methods are governed by Ministerial Decree no. 418 of 30/05/2025.
Art. 5, paragraph 1 of Ministerial Decree 418 of 30/05/2025:
‘The examinations for the three courses referred to in Article 4 shall be held on the same date and at the same time in all universities offering the filter semester, even if this is in derogation from the prohibition on taking examinations on the same date provided for in the University's teaching regulations.’

Art. 5, paragraph 3 of Ministerial Decree 418 of 30/05/2025:
‘Each examination consists of thirty-one (31) questions, fifteen (15) of which are multiple choice and sixteen (16) of which are fill-in-the-blank, as provided for in Annex 2, which forms an integral part of this decree... A time limit of 45 minutes is assigned for each examination relating to each course.’

https://www.uniroma1.it/it/pagina/semestre-aperto-guida-alla-frequenza-dei-corsi

• https://www.uniroma1.it/it/pagina/semestre-aperto-guida-alla-frequenza-dei-corsi