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Clinical Manifestations of Highly Prevalent
Corticosteroid-Binding Globulin Mutations in aVillage in Southern Italy
Centro di Neurogenetica
Nicastro
12 Aprile 2012
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Fenotipo degli eterozigoti
• 12 per la mutazione Null, 6 eterozigoti per la mutazione Lyon
• Lyon – dolore cronico, osteoartrite con dolore
• Null– dolore cronico, osteoartrite con dolore
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Funzioni della CBG
• Proteina di trasporto di vari ormoni– Cortisolo, DOC, aldosterone
• Modulazione del dolore cronico
• Regolazione della composizione corporea e della resistenza all’insulina
• Risposta infiammatoria, riassorbimento intestinale del sodio
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Ricerca futura
• Importanza nella risposta infiammatoria
• Caratterizzazione clinica di tutti soggetti con mutazioni della CBG con un protocollo centralizzato
• Studi prospettici in condizioni basali e di stress
• Ruolo nel ritmo circadiano
• Resilienza