(WDNews) Bethesda, MarylandA possible gene-editing treatment for late-onset Tay-Sachs disease (LOTS), a rare genetic illness that affects roughly 500 people globally, has been developed by researchers at the National Institutes of Health (NIH).
By increasing the activity of the missing enzyme that causes LOTS, researchers were able to decrease symptoms and considerably enhance lifespan in the mouse model, according to the study, which was carried out in both human cells and mice. The symptoms of LOTS, which typically appear in late childhood or adulthood, include muscle weakness, spasms, loss of coordination, and even cognitive deterioration.
The condition is caused by mutations in the HEXA gene, which restricts the synthesis of beta-hexosaminidase A, an enzyme required for the brain’s breakdown of fatty substances. These fatty compounds build up and harm brain and spinal cord nerve cells when there is insufficient enzyme activity.
A small adjustment will have a big impact with LOTS, according to Dr. Richard Proia of the National Institute of Diabetes and Digestive and Kidney Diseases at the National Institutes of Health. To prevent symptoms from worsening and to enhance their quality of life, this modification might only need to raise enzyme activity by roughly 10%.
Although the discovery does not yet offer a solution, scientists say it lays the groundwork for further research on humans. In order to circumvent immune reactions to viral delivery systems and overcome the blood-brain barrier, which presents a challenge for gene therapies, researchers are investigating delivery methods for the genetic edit.
Another study author, Dr. Cynthia Tifft of NIH’s National Human Genome Research Institute, stated that patient involvement enhanced the study.
Working with someone who maintains their enthusiasm and optimism despite this disorder depriving them of bodily control is encouraging. “Knowing that the work we’re doing matters motivates me every day,” Tifft added.
Although more research is required, scientists think their findings might also be applicable to other lysosomal storage disorders such Gaucher, Niemann-Pick, and Sandhoff diseases.
Go to www.nih.gov to learn more about current clinical studies and NIH research.
