UK (Commonwealth Union) – Research into a rare nervous system disorder leading to dementia and early death in children have shed light on a possible treatment.
Regular mixing of a vital enzyme that is lacking in children with infantile Batten disease, also known as CLN1 disease, brought positive results in mice and sheep with an identical genetic disorder. Batten disease often leads to brain dysfunction due to build of substance and is usually seen in children between 5 and 10 years old, which can result in death in the 20s.
The findings, of the research led by University of Edinburgh’s Roslin Institute and Washington University School of Medicine in St. Louis, may lead to the development of effective treatments for children having the disease, that can result in loss of vision, cognitive and movement dysfunction, seizures and early death.
Researchers evaluated the effect of administering doses of the PPT1 enzyme, in mice and sheep having the same faulty gene which brings about the condition in children. Monthly PPT1 enzyme doses to the brains of mice saw enhanced motor function, lower signs of disease in brain cells, and lower loss of brain matter during 6 months of treatment. The research has shown that treatments which are positive in mice can be scaled up to have a similar positive treatment impact in a bigger brain.
Professor Tom Wishart, who is a Professor of Molecular Anatomy at the Roslin Institute of University of Edinburgh, emphasized the importance of working together in this area stating that the work paves the way the final goal of clinical studies to bring the treatment to those who need it the most. “Through studies in sheep, we gain invaluable insights into the progression of this condition which can guide our work towards developing an effective therapy,” he said.
