A recent scientific study has made significant strides in addressing spinal muscular atrophy (SMA), a severe genetic disorder that leads to muscle weakness and loss due to a defective SMN1 gene. Researchers have successfully used gene-editing techniques to introduce a healthy version of this gene in mice, resulting in increased survival rates for these animals.
The findings have been published in the journal Nature Communications, with contributions from Spanish researcher Juan Carlos Izpisúa, who heads the Altos Labs in San Diego, California. The authors of the study suggest that their observations could pave the way for new and effective long-term treatments for hereditary diseases.
SMA occurs due to a flaw in the SMN1 gene, which affects the motor neurons in the spinal cord. This impairment hampers the transmission of nerve impulses to the muscles, leading to progressive muscle weakening and atrophy. It is known to be the most common genetic cause of infant mortality.
Current treatment strategies, which utilize small molecules or viral vectors, have shown promise in enhancing motor function and survival rates. However, the challenge of achieving a lasting correction for the mutations and inherent phenotypes of the disease remains a significant hurdle. Researchers note that the effects of existing treatments are not permanent, making genome editing an area worth exploring.
In this study, the team applied a gene-editing technique called HITI, previously developed by Izpisúa’s group based on CRISPR-Cas9 technology. They directed this technique to repair the defective SMN1 gene directly in mice with SMA.
By introducing a healthy version of the SMN1 gene through complementary DNA—a method often used in genetic engineering—the researchers observed significant and lasting improvements in the health and motor function of the treated mice. Notably, the survival rate for those receiving this gene editing approach was markedly better than that of those undergoing conventional therapy.
In male mice treated with this method, the average survival was 182 days compared to just 72.5 days for those that received standard treatment. Females also showed improved outcomes, with an average survival of 220 days versus 176 days in the conventional group.
Izpisúa emphasized that this combined approach could lead to more effective and sustainable treatments for individuals with hereditary conditions like spinal muscular atrophy. The research involved collaboration with scientists from Salk Institute (California), Osaka University (Japan), and the Catholic University of San Antonio in Murcia (Spain). This collaborative effort showcases the potential of innovative techniques in advancing medical science and improving patient outcomes.
Image and News Source: https://www.infobae.com/america/agencias/2024/07/25/la-edicion-genetica-logra-ampliar-la-supervivencia-en-ratones-con-atrofia-muscular-espinal/
