Università degli Studi di Catania

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.

ASPETTI BIOCHIMICI E BIOMOLECOLARI DI PATOLOGIE DEGENERATIVE

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