The curricular unit Metabolic Biochemistry (MB) aims to advance the understanding of metabolic processes in the human organism.
This learning module will help students to:
- Develop skills to gain in-depth knowledge on the endogenous intermediary metabolism, with particular emphasis on oxidative processes of proteins, lipids and carbohydrates.
- Understand and characterize specific groups of inherited metabolic disorders (IMD)
- Characterize the role of cellular bioenergetics and mitochondrial metabolic processes in cell function and dysfunction relating them to representative pathologies, including IMD
- Describe examples of the intricate relationship between the endogenous metabolic pathways and potential interactions with drugs or their products
- Define biomarkers and recognize their diversity
- Understand the importance of research and analysis of metabolites to the diagnosis and monitoring of diseases, including IMD, and also in pharmacokinetics, toxicokinetics or R & D of drugs
I - Metabolism: general concepts. Activation/inhibition in enzyme catalysis. Nexus with regulation of gene expression and epigenetics.
II – Inherited Metabolic Diseases (IMD) and pathophysiology. Disorders involving amino acid and nitrogen metabolism, fatty acids and carbohydrates: genotype and clinical phenotype. Energy metabolism and mitochondrial disorders. Fatty acid beta-oxidation and oxidative phosphorylation. Homocysteine and B-group vitamins: their connection with cellular methylation reactions, including those of DNA and proteins.
III - Metabolic interactions, therapeutic targets and drug biotransformation. Orphan drugs and therapies for IMD. Characterization of biomarkers for the research in IMD.
I - Amino acid analysis: study of amino acidopathies.
II - Bioenergetics and mitochondrial homeostasis: in silico models
III – Metabolomics and Mass Spectrometry: biomarkers in IMD research.
Workshops and presentations of scientific publications.