MOLECULAR BASIS OF DISEASE
Academic year and teacher
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- Versione italiana
- Academic year
- 2021/2022
- Teacher
- FRANCESCO BERNARDI
- Credits
- 6
- Curriculum
- Biotecnologie per la salute
- Didactic period
- Primo Semestre
- SSD
- BIO/11
Training objectives
- To make students aware of the role in diseases of DNA damage and DNA damage response, altered RNA transcription and mRNA maturation and translation, and altered post-translational modification and folding of proteins. The knowledge of diagnostic approaches and biotechnology applications at the molecular level are also major objectives.
Consequently students at the end of the course should be able, when approaching a disease model, to identify the above mentioned elements and the procedures needed to analyze at the molecular and cellular levels the structural and functional defects responsible for tissue and organ damage. Prerequisites
- PRE-REQUISITES
Students should have basic knowledge and abilities in Biochemistry, Molecular Biology, Genetics and General Pathology to understand molecular mechanisms responsible for increased risk, onset and progression of diseases, and to learn about improved diagnosis and innovative therapeutic approaches. Course programme
- The course includes theoretical blocks and seminar activities.
Theoretic modules:
Molecular characterization of diseases to understand physio-pathologic expression of RNA and proteins, and to identify elements for improved diagnosis and innovative therapeutic approaches.
Lecture themes- 2021
Chromosome telomeres* and telomere- associated disease. Telomere structure and complexes. Telomere chromatin and chromatin modification – SIRT6- Telomere replication and protection- Telomere alteration and Cancer- Aging and telomere length. Mutations in telomere complex genes and disease. Telomerase therapy- models. Extra-telomere function of telomerase.
DNA damage response- Repair mechanisms and complexes. 8-oxo G, OGG1. NER and MMR. MSH proteins MiRNA and MMR. DSB, HRR, BRCA complexes. RNF8 and ubiquitin pathways. NHEJ, Ku proteins. Regulation of DDR by miRNA and RNA editing -ADAR, Neil-1.
Inherited and acquired diseases related to alteration of DNA damage response
X chromosome Inactivation - XIST structure and function, TSIX, XACT, lncRNAs, chromosome and chromatin structure and gene expression. Chromosome domains -Ubiquitinization and Acetilation. PRC. RNA methylation X-linked diseases- Dosage compensation. Didactic methods
- The theoretical parts are organized in frontal lessons (about 40-44 hours) and seminar activities (about 4-8 hours) delivered by invited experts in the presence of the teacher as discussant
Learning assessment procedures
- The aim of the exam is to test the level of knowledge and deepening of the topics of the course program and the reasoning skills developed by the student on lecture issues. The assessment is expressed in thirtieths (minimum grade 18).
With the exception of students with disabilities, the exam is written, and consists of 3 open questions on the main topics of the course. Each response value can score up to 10. In any case, the exam is not considered passed whether the student scores =4 in two questions. Caused by the Covid pandemia, remote oral exams are required. Reference texts
- Advanced textbooks of biochemistry and molecular biology.
Examples. Molecular Biology of the Cell, H.Lodish et al ; "Biochemistry", Berg-Tynoczko-Stryer; "Lehninger Principles of Biochemistry: International Edition", Nelson-Cox.
The Unife and Department websites contain the lecture slides and notes as well as the lectures in streaming recorded during the Covid pandemia
