Pathology and Biological Basis of Life
A.Y. 2024/2025
Learning objectives
- Provide the basic biochemistry knowledge needed to understand the fundamental aspects of human metabolism;
- explain the processes underlying the main chemical reactions, the molecular structure of the main substances that make up living matter and the physical and biological properties of molecules in cellular and extracellular space;
- provide students with the basic concepts concerning cellular adaptation processes and defense mechanisms activated by the body, including inflammation, tissue repair and immune response;
- provide students with the basic aspects of neoplastic transformation;
- provide students with a basic understanding of the structural and functional organization of cells, describing their main metabolic pathways and energy transfer, as well as the molecular mechanisms underlying the expression and transmission of genetic information;
- describe the different phases of mitosis and meiosis and the behavior of chromosomes; present Mendel's laws and use them to solve genetic problems;
- describe the modes of inheritance of human genetic diseases and their causing molecular mechanisms.
- explain the processes underlying the main chemical reactions, the molecular structure of the main substances that make up living matter and the physical and biological properties of molecules in cellular and extracellular space;
- provide students with the basic concepts concerning cellular adaptation processes and defense mechanisms activated by the body, including inflammation, tissue repair and immune response;
- provide students with the basic aspects of neoplastic transformation;
- provide students with a basic understanding of the structural and functional organization of cells, describing their main metabolic pathways and energy transfer, as well as the molecular mechanisms underlying the expression and transmission of genetic information;
- describe the different phases of mitosis and meiosis and the behavior of chromosomes; present Mendel's laws and use them to solve genetic problems;
- describe the modes of inheritance of human genetic diseases and their causing molecular mechanisms.
Expected learning outcomes
At the end of the course the student will:
- know the basic biochemistry;
- know the structure of the main substances at the base of living matter;
- know the main pantothenic mechanisms;
- know the structure of the cell, its main metabolic processes and those of reproduction;
- know the genetic information path, for better understanding possible alterations;
- know the basics of genetics and be able to solve simple problems through the laws of Mendel and the node of inheritance of human genetic diseases;
- know the basic concepts concerning cellular adaptation processes and defense mechanisms activated by the body, including inflammation, tissue repair and immune response;
- know the basic aspects of neoplastic transformation;
- have acquired the bases for the framing of pathological processes within diagnostic radiology, also through different level surveys and their interaction.
- know the basic biochemistry;
- know the structure of the main substances at the base of living matter;
- know the main pantothenic mechanisms;
- know the structure of the cell, its main metabolic processes and those of reproduction;
- know the genetic information path, for better understanding possible alterations;
- know the basics of genetics and be able to solve simple problems through the laws of Mendel and the node of inheritance of human genetic diseases;
- know the basic concepts concerning cellular adaptation processes and defense mechanisms activated by the body, including inflammation, tissue repair and immune response;
- know the basic aspects of neoplastic transformation;
- have acquired the bases for the framing of pathological processes within diagnostic radiology, also through different level surveys and their interaction.
Lesson period: First semester
Assessment methods: Esame
Assessment result: voto verbalizzato in trentesimi
Single course
This course can be attended as a single course.
Course syllabus and organization
Single session
Responsible
Prerequisites for admission
Knowledge of Chemistry, Physics and Mathematics.
Assessment methods and Criteria
The assessment of learning takes place through the final exam, which verifies the acquisition of the knowledge and skills expected for the courses of Biochemistry, Biology, Medical Genetics and General Pathology through a written test lasting 90 minutes. The test is based on quizzes with multiple choice answers and open-ended questions distributed among the different modules. The exam is considered passed if the student has acquired a minimum score of 18/30 in each written test. The final score will be the weighted average, based on credits, of the four scores of the different courses.
Biochemistry
Course syllabus
Matter and atomic structure. Matter and atomic structure. Structure of the atom. Concept of electronegativity. Definition of cations, anions and molecules.
Chemical bonds and intermolecular forces. Ionic bond, covalent bond. Hydrogen bonding.
The solutions. Water: structure and properties. Concept of hydrophobic, hydrophilic and amphipathic substance.
Ionic equilibria in aqueous solution. Water ionization; ionic product of water; pH; acids and bases; buffer solutions.
Chemical reactions. Gibbs free Energy concept and exergonic, endoergonic reactions. Concept of spontaneity of reaction and coupling of reactions to make spontaneous reactions possible. Catalysis and enzyme concept. Redox reactions and Nernst law.
Carbon and its bonds. Main classes of functional groups characterizing biomolecules: alcohols, ketones, aldehydes, carboxylic acids and amines. Derivatives of organic compounds and polyfunctional compounds.
Structure and function of macromolecules of biological interest. Lipids, carbohydrates, nucleic acids, amino acids and proteins.
Cellular metabolism. ATP and other high energy content molecules. NAD+/NADH and FAD/FADH2. Bio-synthesis of ATP. Aerobic glycolysis and lactic acid fermentation. Gluconeogenesis. Krebs cycle. Electron transport chain and oxidative phosphorylation. Synthesis and use of glycogen.
Chemical bonds and intermolecular forces. Ionic bond, covalent bond. Hydrogen bonding.
The solutions. Water: structure and properties. Concept of hydrophobic, hydrophilic and amphipathic substance.
Ionic equilibria in aqueous solution. Water ionization; ionic product of water; pH; acids and bases; buffer solutions.
Chemical reactions. Gibbs free Energy concept and exergonic, endoergonic reactions. Concept of spontaneity of reaction and coupling of reactions to make spontaneous reactions possible. Catalysis and enzyme concept. Redox reactions and Nernst law.
Carbon and its bonds. Main classes of functional groups characterizing biomolecules: alcohols, ketones, aldehydes, carboxylic acids and amines. Derivatives of organic compounds and polyfunctional compounds.
Structure and function of macromolecules of biological interest. Lipids, carbohydrates, nucleic acids, amino acids and proteins.
Cellular metabolism. ATP and other high energy content molecules. NAD+/NADH and FAD/FADH2. Bio-synthesis of ATP. Aerobic glycolysis and lactic acid fermentation. Gluconeogenesis. Krebs cycle. Electron transport chain and oxidative phosphorylation. Synthesis and use of glycogen.
Teaching methods
The course is divided into a series of lectures with slide shows in Power Point. The lectures slides are uploaded to the Ariel website, or given to students as PDF files.
Teaching Resources
M.V. CATANI, V. GASPERI, A. DI VENERE, I. SAVINI, P. GUERRIERI, L. AVIGLIANO: APPUNTI DI BIOCHIMICA per le lauree triennali. II edizione. Editore: Piccin
(PER CONSULTO INTEGRATIVO/FOR ADDITIONAL CONSULTATION PURPOSE: M. SAMAIA, R. PARONI: CHIMICA E BIOCHIMICA per le lauree triennali dell'area biomedica. II edizione - Editore: Piccin)
(PER CONSULTO INTEGRATIVO/FOR ADDITIONAL CONSULTATION PURPOSE: M. SAMAIA, R. PARONI: CHIMICA E BIOCHIMICA per le lauree triennali dell'area biomedica. II edizione - Editore: Piccin)
Experimental biology
Course syllabus
Characteristics of living organisms. Cell theory; cell study methods; prokaryotic cells; eukaryotic cells; hierarchical organization in biology; evolution of organisms.
Structure and organization of the eukaryotic cell. Biological macromolecules; cellular partitioning; cell organelles; ribosomes; cytoskeleton; junctions; matrix.
Structure and function of biological membranes. Fluid mosaic model; transport through the membrane.
Cellular communication. Mode of communication between cells.
Flow of genetic information. Central dogma of biology; DNA replication; transcription; maturation of messenger RNAs; genetic code and its properties; protein synthesis mechanism; post-synthetic fate of proteins; point mutations
Structure and organization of the eukaryotic cell. Biological macromolecules; cellular partitioning; cell organelles; ribosomes; cytoskeleton; junctions; matrix.
Structure and function of biological membranes. Fluid mosaic model; transport through the membrane.
Cellular communication. Mode of communication between cells.
Flow of genetic information. Central dogma of biology; DNA replication; transcription; maturation of messenger RNAs; genetic code and its properties; protein synthesis mechanism; post-synthetic fate of proteins; point mutations
Teaching methods
The course is divided into a series of lectures with slide shows in Power Point. The lectures slides are uploaded to the Ariel website, or given to students as PDF files.
Teaching Resources
DONATI ET AL., Biologia e Genetica - Zanichelli
Medical genetics
Course syllabus
Molecular basis of inheritance. Chromosomes; somatic and germinal cells; chromosome and ploidy structure; chromosome dynamics in mitosis and meiosis; gametogenesis and fertilization; sex determination.
Mendelian genetics. Mendel's laws; genotype and phenotype; gene, allele, locus; interactions between alleles; multiple allelism (ABO).
Associated genes. Associated and independent genes; crossing-over and recombination; distance between genes. Family trees. Representation of family trees; autosomal dominant inheritance, autosomal recessive, chromosome X-related; mitochondrial inheritance, mendelian genetic diseases.
Gene mutations. Evolutionary role; spontaneous and induced mutations; germline and somatic mutations; mosaicism; molecular bases; phenotypic effects (neutral mutations, missense, nonsense, frameshift).
Multi-factor inheritance. Continuous and discontinuous characters; interaction with the environment.
Human karyotype. Morphology and classification of human chromosomes; the normal human karyotype; prenatal and postnatal chromosomal analysis; preparation of a chromosomal preparation; inactivation of the X chromosome.
Chromosomal and genomic mutations. Main chromosomal mutations (deletion, duplication, inversion, translocation) and their effects; genomic mutations (polyploidy, aneuploidy), non-disjunction; main aneuploidies of autosomes and heterosomes in humans.
Mendelian genetics. Mendel's laws; genotype and phenotype; gene, allele, locus; interactions between alleles; multiple allelism (ABO).
Associated genes. Associated and independent genes; crossing-over and recombination; distance between genes. Family trees. Representation of family trees; autosomal dominant inheritance, autosomal recessive, chromosome X-related; mitochondrial inheritance, mendelian genetic diseases.
Gene mutations. Evolutionary role; spontaneous and induced mutations; germline and somatic mutations; mosaicism; molecular bases; phenotypic effects (neutral mutations, missense, nonsense, frameshift).
Multi-factor inheritance. Continuous and discontinuous characters; interaction with the environment.
Human karyotype. Morphology and classification of human chromosomes; the normal human karyotype; prenatal and postnatal chromosomal analysis; preparation of a chromosomal preparation; inactivation of the X chromosome.
Chromosomal and genomic mutations. Main chromosomal mutations (deletion, duplication, inversion, translocation) and their effects; genomic mutations (polyploidy, aneuploidy), non-disjunction; main aneuploidies of autosomes and heterosomes in humans.
Teaching methods
The course is divided into a series of lectures with slide shows in Power Point. The lectures slides are uploaded to the Ariel website, or given to students as PDF files.
Teaching Resources
PURVES: Elementi di Biologia e Genetica - Zanichelli
RUSSEL, WOLFE: Elementi di Genetica - Edises
RUSSEL, WOLFE: Elementi di Genetica - Edises
Experimental medicine and pathophysiology
Course syllabus
Introduction. Definition of etiology, pathogenesis, disease.
Cellular pathology. Reversible/irreversible damage; apoptosis/necrosis; atrophy, hypertrophy, hyperplasia, metaplasia.
Immune response. Humoral and cell-mediated immune response; immunodeficiencies, hypersensitivity reactions, autoimmunity.
Inflammation. Acute inflammation: vascular changes, cellular events, mediators; chronic inflammation; systemic responses to inflammation.
Tissue repair. Wound healing, regeneration.
Oncology. Epidemiology and classification of tumors; characteristics of the cancer cell; molecular bases of tumors, oncogenes, oncosuppressors; metastases.
Cellular pathology. Reversible/irreversible damage; apoptosis/necrosis; atrophy, hypertrophy, hyperplasia, metaplasia.
Immune response. Humoral and cell-mediated immune response; immunodeficiencies, hypersensitivity reactions, autoimmunity.
Inflammation. Acute inflammation: vascular changes, cellular events, mediators; chronic inflammation; systemic responses to inflammation.
Tissue repair. Wound healing, regeneration.
Oncology. Epidemiology and classification of tumors; characteristics of the cancer cell; molecular bases of tumors, oncogenes, oncosuppressors; metastases.
Teaching methods
The course is divided into a series of lectures with slide shows in Power Point. The lectures slides are uploaded to the Ariel website, or given to students as PDF files.
Teaching Resources
G.M. PONTIERI: Elementi di patologia generale. IV edizione - Piccin Editore
E. RUBIN, H.M. REISNER: Patologia generale. - Piccin Editore
E. RUBIN, H.M. REISNER: Patologia generale. - Piccin Editore
Biochemistry
BIO/10 - BIOCHEMISTRY - University credits: 1
Lessons: 10 hours
Professor:
Chiricozzi Elena
Experimental biology
BIO/13 - EXPERIMENTAL BIOLOGY - University credits: 1
Lessons: 10 hours
Professor:
Massa Valentina
Experimental medicine and pathophysiology
MED/04 - EXPERIMENTAL MEDICINE AND PATHOPHYSIOLOGY - University credits: 2
Lessons: 20 hours
Professor:
Malabarba Maria Grazia
Medical genetics
MED/03 - MEDICAL GENETICS - University credits: 2
Lessons: 20 hours
Professor:
Gervasini Cristina Costanza Giovanna
Educational website(s)
Professor(s)
Reception:
By appointment