Lo studio pubblicato sulla rivista Science, riporta l’esperienza di un equipe di ricercatori della University of Rochester di New York, che hanno effettuato esperimenti su topi da laboratorio affetti da distrofia miotonica.
L’ipotesi alla base della ricerca era che nel caso della distrofia miotonica, caratterizzata dalla incapacità di rilassare i muscoli, l’organismo è sano, salvo alcune proteine che non si comportano nel modo dovuto.
A differenza di molte malattie ereditarie in cui geni difettosi provocano la mancanza od il difetto di determinate proteine, nel caso della distrofia miotonica si produce una forma tossica di acido ribonucleico, RNA, il cui compito è quello di fornire le istruzioni sulla produzione delle proteine.
Le proteine prodotte dall’RNA difettoso si “incollano” tra di loro e quindi non sono in grado di svolgere il loro lavoro.
La procedura adottata dai ricercatori è stata orientata a neutralizzare l’attività dei geni difettosi attraverso l’utilizzo di una tecnologia moderna, RNA antisenso, che interferisce sull’attività genetica di produzione delle proteine.
Normalmente l’RNA antisenso distrugge l’RNA difettoso, ma i ricercatori hanno voluto sperimentare se fosse possibile neutralizzare il gene difettoso piuttosto che distruggerlo, creando molecole sintetiche che si legano all’RNA impedendogli di sintetizzare le proteine difettose.
I ricercatori hanno iniettato questo composto particolare di molecole sintetiche nel tessuto muscolare di topi che avevano la distrofia miotonica.
Le proteine che erano incollate insieme si sono separate ed hanno ripreso la loro normale funzione, il che ha consentito ai muscoli di comportarsi correttamente.
Secondo i ricercatori lo studio ha dimostrato le premesse per un nuovo tipo di trattamento terapeutico sull’uomo, anche se bisogna ancora identificare il metodo migliore per iniettare direttamente le molecole sintetiche nei muscoli interessati.
Hanno anche affermato che è ancora necessario un approfondimento su quanto e come i muscoli danneggiati dalla malattia siano in grado di riprendere tono e dimensioni normali dopo il trattamento.
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