Metabolic Effects of VHL Deficiency Fulvio Della Ragione, M.D. - - PowerPoint PPT Presentation

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Metabolic Effects of VHL Deficiency Fulvio Della Ragione, M.D. - - PowerPoint PPT Presentation

Feb 23, 2023 19 likes •440 views

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

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Metabolic Effects of VHL Deficiency

Fulvio Della Ragione, M.D.

University of Campania “Luigi Vanvitelli” Naples, Italy

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The fascinating mechanism of hydroxylation-dependent HIF destruction

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  • About a decade ago a young man with

polycythemia, reduced growth rate, persistent hypoglycaemia was admitted to the Pediatric Department of our University

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Clinical data at birth

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Main clinical data at Diagnosis and today

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Exercise Capacity

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The arrows highlight the presence of nano tunnels

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Cholesterol level today

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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

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Murray AJ O’Brien KA

Department of Physiology, Development, and Neuroscience , Cambridge

Griffin JL West JA

Department of Biochemistry, Cambridge

Corsetto P Rizzo M

Department of Pharmacology and Biomolecular Science, Milan

Borriello A Bencivenga D Stampone E

Department of Precision Medicine, University of Campania, Naples

Perrotta S Roberti D Caiazza M Scianguetta S

Department

  • f Woman, Child, and

General and Specialized Surgery , University of Campania, Naples

Formenti F Robbins PA

Department of Physiology, Anatomy, and Genetics, Oxfore

Fleck RA Allison L

Centre for Ultrastructural Imaging, London

Franzini-Armstrong C

Department of Cell and Developmental Biology, Philadelphia

ACKNOWLEDGEMENTS