Unit FUNDAMENTALS OF MOLECULAR PATHOLOGY

Course
Biotechnology
Study-unit Code
A001792
Curriculum
In all curricula
Teacher
Leonardo Leonardi
Teachers
  • Leonardo Leonardi
Hours
  • 47 ore - Leonardo Leonardi
CFU
6
Course Regulation
Coorte 2020
Offered
2022/23
Learning activities
Affine/integrativa
Area
Attività formative affini o integrative
Academic discipline
VET/03
Type of study-unit
Opzionale (Optional)
Type of learning activities
Attività formativa monodisciplinare
Language of instruction
Italian
Contents
Intrinsic and Extrinsic Causes of Disease. Regressive and Progressive processes. Oncology. Classification of the tumors. Carcinogenesis. Oncogenes and Tumor Suppressor Genes. Invasive cancer and metastasis. Acute and Chronic inflammation.
Reference texts
Patologia Generale, PONTIERI-RUSSO-FRATI Ed. Piccin
Istituzioni di Patologia Generale, DIANZANI Ed. UTET
Educational objectives
The lesson of Molecular Pathology is a teaching course that studies pathological phenomena at the molecular level of disease than the biology and physiology of the cell. This course intends to gain knowledge about basic mechanisms underlying the most common diseases in humans and the cell response to changes in the external environment. The main objective of the course is to acquire knowledge about:

• intrinsic molecular pathology

• physical, chemical and biological causes of disease

• molecular mechanisms of cell death

• carcinogenesis, molecular oncology

• cellular and molecular processes of inflammation

The skills acquired in the study of this discipline will allow a broad overview of the relationship between the human genome, the environment and the development of diseases.
Prerequisites
The acquisition of relevant knowledge in the course of Molecular Pathology, provide for the achievement of knowledge in Genetics, Molecular Biology and Biochemistry. The basic knowledge of these materials are essential to the student to understand the concepts etiopathogenetic of molecular and cellular pathology. The student so prepared will draw from the course a substantial profit.
Teaching methods
Students will be given lectures. The lectures deal with the whole program of the course of study. Each lesson will last for two hours in which the subject will be given to enable the student to have a broad vision of the topics covered. Students will be proposed to conduct, at its option, seminars about the topics presented in class. The seminars will be conducted in groups of two or three people. Students will be provided bibliographic material concerning the subject, the subject of the seminar and present themselves to their colleagues of the course using media (Power-Point and / or the like).
Other information
The teacher Leonardo Leonardi, is available to the students in progress, out of course, working students, disabled and / or with DSA, for any eventual need or support of didactic and institutional order, as well as for any possible need also related to protocols Erasmus +, regardless of office hours. The phone number of the teacher is 075.5857663, the email: leonardo.leonardi@unipg.it, the mobile 347.3809349.
Learning verification modality
The evaluation of the student uses an oral exam at the end of the lecture course. The oral examination lasts an average of thirty minutes depending on the degree of knowledge of the topics covered and the presentation skills of the student. The test consists of three questions regarding matters relating to: intrinsic and extrinsic causes of disease; mechanisms of cellular stress, molecular and cell death; alterations of the cell to the state of oncology and inflammation. The oral examination is essential for the assessment of the knowledge acquired by the students, its exhibition capacity and mastery of the subject with particular reference to the ability to link between different topics.
Extended program
Intrinsic Causes of Disease

Genetic Pathology
-Instrumental genetical analysis in diagnostic human diseases.
-Experimental model of genetic diseases.
-Monogenic autosomic and heterochromosomic diseases. Heterogenetic interaction between genes and their products, interaction genes-environment, dynamic and somatic mutations, epigenetic modification.
-DNA mutation, mechanisms of DNA repair.
-Mitochondrial DNA mutations.
-Genetic susceptibility of human diseases. Concept of genetic penetrance.
-Blood genetic diseases: Thalassemia, Spherocytosis, Depranocytosis, Hemophilia.
-Muscular Dystrophya.
-Chromosomal Alteration. Numerical and structural alteration of the chromosomes (Down, Turner and Klinefelter syndromes).


Extrinsic Causes of Disease
-Physical agents. Non ionizing and ionizing radiation. Low and high temperature: freezing and burn. Electric and electromagnetic energy.
-Chemical and Environmental agents. Environment pollution, Drugs.
-Alimentary causes. Vitamins: A, D, E, K, B and C group.
-Free Radical: Oxidative stress.
-Causes of Embryopathy and Fetopathy: physical, infective, endocrine and toxic.

Cellular Pathology
-The cell: structure and principal functions. Phases and proteins regulating cell cycle. Membrane receptors and principal pathways in mitogenic signalling.
-Elementary injury of the cell. Pathology of nucleus, mitochondria, endoplasmic reticulum, lysosomes, cytoskeleton, peroxisome, Golgi apparatus and cell membrane.

Regressive processes
-Physiological and pathological Atrophy.
-Vacuolar, hydropic and turbid degeneration. Hyaline and Mucoid degenerations. Steatosis.
-Extracellular Regressive processes. Amiloidosis, Hyaline, Mucoid and Fibrinoid degenerations.
-Pathology of extracellular matrix, fibrosis, cirrhosis and sclerosis.
-Cell death. Necrosis. Gangrene. Outcome of necrotic process. Autolysis post-mortem. Apoptosis.
-Ageing. Theory of senescence. Molecular analysis of senescence. Ageing of organism, cell and subcellular fractions. Pathology of ageing.
Concept of Immunopathology and autoimmune diseases.
Progressive processes.
-Physiological and pathological hypertrophy and hyperplasia, regenerative process in labile, stable and perennial cells. Liver regeneration, reconstitution process.

Molecular Oncology
-Classification of the tumors. Characteristics of normal and transformed cell. Metaplasia, Dysplasia, Anaplasia. Benignant and Malignant tumors. Histological classification and morphological features of human tumors.
-In situ carcinoma.
-Carcinogenesis. Epidemiology of tumor. Carcinogenesis: chemical, physical (U.V. and ionizing radiations), viral, environmental.
-Co-carcinogenesis, mechanism of transformation.
-Molecular basis of the transformed cell. Pathogenetic mechanisms. Oncogenes and Tumor Suppressor Genes. Control of DNA replication. Mutations. Hereditary tumor diseases. Karyotype and chromosomal alteration in tumor.
-Role of the apoptosis control in the tumor growth..
-Molecular pathology in DNA repair. Mismatch repair. Lynch syndrome and hereditary colon-recto carcinoma. Excision repair. Xeroderma Pigmetosum and Ataxia-telangiectasia.
-Angiogenesis in cancer.
-Concept of invasive cancer. Metastasis and stage of the cancer. Molecular mechanisms of the metastasis. Metastasis routes.


Inflammation
-General characteristic and definition of inflammation. Recognition mechanisms of pathogens. Distinctive characters between acute and chronic phlogosis.
-Acute exudative phlogosis (Angiophlogosis) The inflammation phases. Plasmatic and tissutal mediators of inflammation. The exudation: different types of exudate. Acute phase proteins. Acute phase cells. The diapedesis, the chemotaxis, and phagocytosis. Different types of acute inflammation: serous, serous-fibrinous, fibrinous, catarrhal, purulent, hemorrhagic, necrotic- hemorrhagic and allergic.
-Chronic phlogosis. The cells of chronic inflammation.
-Chronic inflammation: granulomatosis and interstitial. Structure of granuloma: tuberculoma, syphiloma, rheumatic nodule, leprous, viral granuloma and foreign body granuloma.
-Outcome of inflammatory process. The repair processes and granulation tissue.
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