01132 - Molecular Pathology - Immunology (Integrated Course) (LZ-A)

Learning outcomes

At the end of the course the student knows the mechanism through which genomic alterations cause diseases; the phenotype of  tumor cells, the origin and natural history of tumors within the framework of cancer prevention and innovative preclinical approaches to the control of cancer; the student is able to apply this knowledge to specific pathologies.

Course contents

The course of Molecular Pathology is comprised of a "Genetic Diseases" section (2 credits) to which the following program refer, and an Oncology section (3 credits) the program of which is published on the web page of Prof. Lollini.

GENETIC DISEASES

 

Types and causes of mutation and their pathogenic effects. Mode of transmission of the autosomal dominant, recessive and X-linked diseases. Outline of multifactorial and mitochondrial disorders. Chromosomal aberrations: Del22q11.2 syndrome. Diseases with classical Mendelian transmission: hereditary spherocytosis, Duchenne and Becker muscular dystrophy, osteogenesis imperfecta, cystic fibrosis, Tay-Sachs disease and outline of lysosomal storage diseases. Postranscriptional and epigenetic mechanisms of gene expression control: the non-coding RNAs and the RNA interference mechanism. Parental imprinting: the Prader-Willi and Angelman syndromes. Glycosylation of proteins and outline the congenital disorders of glycosylation (CDGs). Sequence expansion diseases: fragile X syndrome, Huntington's chorea and locus C9orf72. Techniques of molecular analysis: the polymerase chain reaction (PCR). The "fluorescence in situ hybridization" (FISH). The microarray technologies. The loss of heterozygosity (LOH). Hereditary cancer syndromes. "Gatekeeper" and "Caretaker" genes. Gatekeeper gene alterations. Retinoblastoma: Knudson paradigm and subsequent revisions. Role of the Rb protein. Adenomatous polyposis coli: the role of the APC protein. The von Hippel Lindau and the hypoxia detection mechanisms. Gastric cancer and the role of E-cadherin in epithelial-mesenchymal transition (EMT). Caretaker gene alterations. DNA damage repair mechanisms: NER, BER, non homologous end joining (NHEJ), homologous recombination and mismatch repair. The network of genotoxic damage detection: the role of ATM and p53 genes. Xeroderma pigmentosum, ataxia telangiectasia, hereditary forms of breast cancer, Li-Fraumeni syndrome, hereditary non-polyposis colon cancer. Alterations of the stability of microsatellite sequences. Neoplastic syndromes caused by mutations of oncogenes: multiple endocrine neoplasia (MEN).

Readings/Bibliography

Robbins & Cotran Pathologic Basis of Disease 9th edition

Teaching methods

16 hours in groups of 2 hours lessons. Slides available on line (AMS Campus). It is strongly recommended to print the slides, and to use the prints as a track to make notes.

Assessment methods

Oral examination at the end of the course. The dates of the exams are published on AlmaEsami.

Teaching tools

The most appropriate textbook for this course is the Robbins-Cotran, The pathological basis of disease, 9th edition, Elsevier. However, it is strongly recommended the attendance to the course.

Office hours

See the website of Fabio Dall'Olio