Thesis defense Valéna Karaghiannis

Le 24 October 2024

Amphi DE

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14H

Title of the thesis : Functional study of genetic variants in the hypoxia pathway associated with the development of polycythemia or tumours

Equipe

Team I - Human Genetics

Directrice de thèse

Betty Gardie

Rapporteurs

Eric Allemand, PhD, CR, Inserm, Institut Imagine, Paris
Isabelle Plo, PhD, DR2, Inserm, Gustave Roussy, Paris

Examinatrices

Sophie Gad Lapiteau, PhD, MCU, École Pratique des Hautes Études - Université PSL, Paris
Alexandra Martins PhD, CR Inserm U1245 - Université de Rouen, Rouen

Abstract

Maintaining tissues under physioxic conditions is crucial, necessitating mechanisms of adaptation that depend on oxygen levels. The activation of cellular oxygen adaptation pathways is regulated by the hypoxia-inducible factor (HIF). The degradation of HIF in the presence of oxygen is controlled by the von Hippel-Lindau (VHL) protein, which is encoded by the VHL tumor suppressor gene. Hereditary mutations in these two key components of the hypoxia pathway can lead to phenotypes of varying severity, depending on the functional impact of the mutation. To improve patient diagnosis and monitoring, this thesis aims to identify the molecular mechanisms underlying different phenotypes and quantify the severity of deregulations associated with these mutations.

Mis à jour le 17 July 2024.