Researchers from the University of Oviedo and the Salk Institute of California have published two independent studies this week in the journal Nature Medicine that test a gene-based therapy for the treatment of Hutchinson-Gilford accelerated aging syndrome.
This rare disease, also known as progeria, is characterized by the appearance of alterations associated with aging during childhood, which ultimately lead to the premature death of affected people.
The proposed new treatment would be the first with permanent effects, acting directly on the mutated gene.
For the authors, the study of this syndrome can provide very valuable information about the mechanisms involved in normal aging.
As explained by Carlos López-Otín, from the University of Oviedo, this disease is caused by a mutation in the gene called LMNA, which causes the accumulation of a toxic protein in the nucleus of cells.
Although some therapies have recently been developed with positive results against this syndrome, the proposed new treatment would be the first with permanent effects, acting directly on the mutated gene.
The two groups that have participated in the work have designed two similar therapies based on the gene editing technique with the CRISPR/Cas9 system. “The objective is to modify the LMNA gene to avoid the production of the toxic protein,” says Juan Carlos Izpisúa-Belmonte, of the Salk Institute.
Testing in rodents
The authors of both works have tested this gene editing system in a murine model of the disease previously generated in the López-Otín laboratory.
According to Olaya Santiago-Fernández, “the use of this technique in mice with progeria results in an increase in their life expectancy and an improvement in the symptoms of accelerated aging“.
In addition, due to the multiorganic nature of progeria, this study also demonstrates for the first time the CRISPR/Cas9 system’s ability to cope with systemic diseases.
One more step against progeria
Taken together, these studies constitute another step in the possible application of gene-editing therapies with CRISPR/Cas9 for the treatment of diseases that have been incurable so far, as in the case of Hutchinson-Gilford progeria.
The various preclinical studies carried out with this type of therapy for the treatment of various pathologies are promising. However, more research is still needed to ensure its safe use in the treatment of patients.
Sammy Basso, an Italian patient with Progeria who has recently graduated in Biology from the University of Padua, has participated in this project. The experimental part of his final thesis, focused on the investigation of this disease, was carried out at the University of Oviedo.
Source: SINC
