Metabolic Effects of VHL Deficiency Fulvio Della Ragione, M.D. University of Campania “Luigi Vanvitelli” Naples, Italy
The fascinating mechanism of hydroxylation-dependent HIF destruction
• About a decade ago a young man with polycythemia, reduced growth rate, persistent hypoglycaemia was admitted to the Pediatric Department of our University
Clinical data at birth
Main clinical data at Diagnosis and today
Exercise Capacity
The arrows highlight the presence of nano tunnels
Cholesterol level today
Take Home Messages VHL reduction at integrative level results in a complex phenotype that includes: Growth reduction Polycythemia Altered mitochondria function and structure Possibly altered membrane structure and fluidity Complex metabolic changes Altered cholesterol/fatty acid biosynthesis Increased use of glucose in glycolysis Reduction of TCA intermediates Amino acids as source of energy
ACKNOWLEDGEMENTS Borriello A Murray AJ Formenti F Bencivenga D O’Brien KA Robbins PA Stampone E Department of Physiology, Department of Physiology, Development, and Anatomy, and Department of Precision Neuroscience , Cambridge Genetics, Oxfore Medicine, University of Campania, Naples Fleck RA Griffin JL Allison L Perrotta S West JA Centre for Ultrastructural Imaging, Roberti D Department of Biochemistry, London Cambridge Caiazza M Scianguetta S Franzini-Armstrong C Corsetto P Department Department of Cell and Rizzo M of Woman, Child, and Developmental Biology, General and Specialized Department of Philadelphia Surgery , University of Pharmacology and Campania, Naples Biomolecular Science, Milan
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