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

Academic Year 2017/2018

  • Teaching Mode: Traditional lectures
  • Campus: Bologna
  • Corso: Single cycle degree programme (LMCU) in Medicine and Surgery (cod. 8415)

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 Pathology" part (2 credits) to which the following program refer, and an Oncology part (3 credits) the program of which is published on the web page of Prof. Lollini.

GENETIC PATHOLOGY

 

Mutations: types and causes and their pathogenetic effects. Outlines on multifactorial and mithochondrial diseases. DNA damage repair mechanisms: NER, BER, non homologous end joining (NHEJ), homologous recombination and mismatch repair. The network of genotoxic damage detection. Chromosomal disorders: Del22q11 syndrome. Mendelian disorders. Alterations of cytoskeleton proteins: Duchenne and Becker dystrophies. Alterations of extracellular matrix proteins: collagen diseases (osteogenesis imperfecta). Alterations of lysosomal enzymes: The Tay-Sachs disease. Alterations of ion channels: cystic fibrosis. Epigenetic and postranscriptional mechanisms of control of gene expression: promoter methylation, long non-coding RNAs, RNA interference. Genomic imprinting: the Prader-Willi and Angelman syndromes. Protein glycosylation and outline on congenital diseases of glycosylation (CDGs). Disease caused by trinucleotide repeat expansions: fragile-X syndrome Huntington corea and locus C9orf72.  Molecular techniques: polymerase chain reaction (PCR), fluorescence in situ hybridization (FISH). Expression and genomic microarray techniques. CRISPR/Cas9. Hereditary cancer syndromes: “gatekeeper” genes: retinoblastoma and the Knudson's hypothesis. Role of Rb protein. Familial adenomatous polyposis: the role of APC protein in the cell cycle control. The concept of loss of heterozygosis (LOH). The von Hippel Lindau syndrome and the hypoxia responsive mechanisms. gastric cancer and E-cadherin. “Caretaker” genes. Role of ATM and p53 genes. Alterations of gatekeeper genes. Xeroderma pigmentosum, ataxia telangiectasia, hereditary breast cancer, Li-Fraumeni syndrome, non-polyposis colorectal cancer. Alterations of microsatellite sequences. 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