ASPETTI BIOCHIMICI E BIOMOLECOLARI DI PATOLOGIE DEGENERATIVE

9 CFU - 2° Semester

Teaching Staff

GIUSEPPE LAZZARINO - Module Biochemistry with Elements of Clinical Biochemistry - BIO/10 - 6 CFU
GIUSEPPINA RACITI - Module Biochemistry with Elements of Clinical Biochemistry
ANGELA ANNA MESSINA - Module BIOMOLECULAR ASPECTS OF DEGENERATIVE DISEASES - BIO/11 - 3 CFU

Learning Objectives

Biochemistry with Elements of Clinical Biochemistry
To give an insight into the mechanisms of protein folding. To acquire knowledge on inborn errors of metabolism and on common mechanisms of acute and chronic neurodegenerations. To underatnd the role of biomarkers in clinical biochemistry. To supply a vast overview of the molecular mechanism involved in cancer development and progression.
BIOMOLECULAR ASPECTS OF DEGENERATIVE DISEASES
This module aims to address the vast field of the most widespread degenerative disease, cancer, highlighting the role of concepts and topics studied in basic molecular biology. In other words, it will be highlighted how in cancer the dysregulation or destruction of processes and structures studied in molecular biology are the very basis of the pathological phenomenon. The student will then deepen concepts of molecular biology applied to this degenerative disease.

To provide a complete and wide-ranging introduction to the panorama of molecular knowledge and the state of research into the causes of cancer.

Course Structure

Biochemistry with Elements of Clinical Biochemistry
Frontal lessons.
BIOMOLECULAR ASPECTS OF DEGENERATIVE DISEASES
The course includes frontal lessons with the use of ppt slides and animations

Detailed Course Content

Biochemistry with Elements of Clinical Biochemistry
Short summary of the structure of proteins: the peptide bond, primary, secondary, tertiary and quaternary structure. Super-secondary structures. Structural and functional protein domains. Th folding of proteins. Thermodynamic of protein folding. Spontaneity of protein folding. The role of the S-S bridges in the stabilization of the partially folded proteins. The molten globule. The Anfisen paradox. The assisted protein folding and the chaperonines. Classification of eucariotic and procariotic chaperonins. Structure and function of Gro-Es e Gro-El. The chaperonpathies: examples of hereditary e non-hereditary pathologies related to protein misfolding.

The point mutatios: relationship between changes in the structure and function of mutated proteins. Rare diseases: the inborn errors of metabolism (IEM). Examples of IEM related to the metabolism of glycogen, purines and pyrimidines, organic acids, amino acids and N-acetylaspartate (NAA).

Approaches for the clinical-biochemical diagnosis of IEM. Main analytical techniques for the clinical-biochemical diagnosis of IEM. Prenatal and postnatal diagnoses of IEM. Small scale and large scale screenings of IEM.

Biomarkers: definition, characteristics and validation.

General characteristics of the main enzymes of clinical relevance and their changes under pathological conditions. Laboratory analyses associated to atherosclerotic risk factors. Tumoral biomarkers and their use in oncologic diagnosis. The metabolic syndrome. Laboratory diagnosis of autoimmune diseases. Common biochemical changes associated with acute and chronic neurodegenerative pathologies. traumatic brain injury and multiple sclerosis. NAA as a biomarker of neuronal integrity. Introduction to homeostasis of NAA under physiological and pathological conditions.
BIOMOLECULAR ASPECTS OF DEGENERATIVE DISEASES
The nature of cancer - cellular aspects - epidemiological aspects - risk factors
Tumor viruses
Cellular Oncogenes
Overview of intracellular signaling routes
Tumor Suppressor Genes - pRB
Cell cycle and its control
Apoptosis - control by p53
Immortalisation of cancer cells - role of telomeres
Maintaining genome integrity

Textbook Information

Biochemistry with Elements of Clinical Biochemistry
1) Struttura e funzione delle proteine, Petsko e Ringe, Zanichelli

2) Ad hoc materials supplied to students (scientific papers, slides, etc.)
BIOMOLECULAR ASPECTS OF DEGENERATIVE DISEASES
L. Pecorino Biologia molecolare del cancro Zanichelli 2010

R.A. Weinberg La Biologia del Cancro Zanichelli 2016

Open in PDF format Versione in italiano