Rete segnata dai ricercatori dell’ Istituto Telethon di genetica e medicina di Napoli nei confronti della retinite pigmentosa, la più comune forma di cecità ereditaria: la partita è solo all’inizio, ma come descritto sulle pagine della rivista scientifica EMBO Molecular Medicine, i ricercatori napoletani guidati da Enrico Maria Surace hanno compiuto il primo passo necessario per arrivare alla correzione del difetto gene responsible for this serious eye disease. Retinitis pigmentosa affects about one in 3000 and is a very heterogeneous disease, both as it manifests itself, both in how it is transmitted from one generation to another. In particular, the group of Surace focused on those forms where you just get the defective gene from one parent (sick in turn) to develop the disease. "Diseases of this type, known as autosomal dominant, are very difficult to treat with gene therapy - Surace says - because the genetic defect does not determine the absence of a protein, but the presence of an abnormal protein, and then for toxic the body. It does not help then give the patient a copy of the healthy gene: we must instead try to 'turn off' the bad one and this is much more difficult. "
For nearly 10 years scientists from around the world are trying to 'put silenced 'defective genes like these, with the help of computer. To do this artificial protein design, inspired by other naturally occurring, able to 'embrace' specifically altered genes and prevent their action. In the case of retinitis pigmentosa, things are even more complicated: as explained by the researcher Tigem, 'the dominant forms of the disease are about 35% and cover frequently rhodopsin gene, which may have at least 150 different errors in its sequence that translate into a lack of vision. It is unthinkable to build as many 'protein switches' ad hoc, would be very expensive: we have therefore tried to think of another strategy. " The idea of \u200b\u200bTigem of researchers has been to build a universal switch to the rhodopsin gene, is able to turn off the sound that is altered, regardless of the type of genetic error.
Surace Comment: "Thanks to this Technology-based protein "artificial" DNA binding, we have succeeded for the first time to inactivate the affected gene of rhodopsin in the retinal cells in animal models: The next step will be to provide, together with the switch to turn off of rhodopsin, including the healthy version of the gene. " Strong of the important achievements in gene therapy of another hereditary disorder of sight, Leber congenital amaurosis, Tigem researchers are planning to continue on this path and then open the doors of Gene therapy with dominant inheritance also diseases that have historically discouraged scientists for their inherent difficulty to be treated.
“Potenzialmente questo approccio potrebbe applicarsi a numerose altre malattie dominanti che colpiscono non solo l’occhio, ma altri organi: penso quindi che questo risultato incoraggi a investire nella terapia genica di questa categoria di malattie genetiche rare, ancora troppo trascurate”, conclude Surace.
For nearly 10 years scientists from around the world are trying to 'put silenced 'defective genes like these, with the help of computer. To do this artificial protein design, inspired by other naturally occurring, able to 'embrace' specifically altered genes and prevent their action. In the case of retinitis pigmentosa, things are even more complicated: as explained by the researcher Tigem, 'the dominant forms of the disease are about 35% and cover frequently rhodopsin gene, which may have at least 150 different errors in its sequence that translate into a lack of vision. It is unthinkable to build as many 'protein switches' ad hoc, would be very expensive: we have therefore tried to think of another strategy. " The idea of \u200b\u200bTigem of researchers has been to build a universal switch to the rhodopsin gene, is able to turn off the sound that is altered, regardless of the type of genetic error.
Surace Comment: "Thanks to this Technology-based protein "artificial" DNA binding, we have succeeded for the first time to inactivate the affected gene of rhodopsin in the retinal cells in animal models: The next step will be to provide, together with the switch to turn off of rhodopsin, including the healthy version of the gene. " Strong of the important achievements in gene therapy of another hereditary disorder of sight, Leber congenital amaurosis, Tigem researchers are planning to continue on this path and then open the doors of Gene therapy with dominant inheritance also diseases that have historically discouraged scientists for their inherent difficulty to be treated.
“Potenzialmente questo approccio potrebbe applicarsi a numerose altre malattie dominanti che colpiscono non solo l’occhio, ma altri organi: penso quindi che questo risultato incoraggi a investire nella terapia genica di questa categoria di malattie genetiche rare, ancora troppo trascurate”, conclude Surace.
fonte: Retina Italia Onlus
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