The invention is in the field of molecules known as "small interfering RNA" with therapeutic applications. These molecules have the ability to reduce the expression of genes in an extremely specic way, allowing the function of cells, thanks to molecular manipulations previously precluded. The CLCN7- dependent ADO is a disease characterized by the absence of bone cell function called osteoclasts, and manifests itself with very dense but brittle bones, disorders in the production of blood cellular elements and sensory-motor functions, inflammation of the osteo-muscular apparatus, and dental problems. The disease, currently untreated, affects 5 individuals out of 100,000, and is caused by the mutation of a gene (CLCN7), essential for the function of osteoclasts.
In this context, a team of researchers from the University of L'Aquila developed siRNAs optimized for the treatment of ADO2 CLCN7-dependent disease, which act on the selective reduction of the mutated protein compared to the normal one.
The siRNA molecules developed have proved to be highly specic, eliminating at least 80% of the transcript of the mutated gene, restoring the function of the osteoclasts, and thus creating a situation similar to the normal functioning of the cells, and an improvement in the symptoms of the disease.