Un gruppo di ricercatori di Losanna ha scoperto una nuova malattia genetica. Questa patologia, che non ha ancora un nome, causa gravi ritardi nello sviluppo celebrale e nella crescita ossea.
L'osservazione di alcuni pazienti portatori di questi sintomi ha portato Andrea Superti-Furga — docente alla Facoltà di biologia e medicina dell'Università di Losanna (UNIL) e caposervizio all'ospedale dello stesso istituto (CHUV) — a chiedersi se questi sintomi non potessero nascondere una causa comune.
"Nel giro di cinque anni abbiamo scoperto delle mutazioni genetiche su otto pazienti dai 3 ai 46 anni provenienti da Canada, Gran Bretagna, Francia e Giappone", ha spiegato lo specialista in un comunicato diffuso lunedì dall'UNIL. Lo studio, pubblicato su "Nature Genetics", ha dimostrato che a scatenare la malattia è un disturbo nella sintesi dell'acido sialico, sostanza presente soprattutto nel cervello umano. Ora allo studio c'è una cura per via orale.
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