Researchers from the University of Helsinki and Folkhälsan Research Center have made exciting discoveries that could help treat a severe genetic disease affecting newborns. This disease, known as GRACILE syndrome, disrupts the body's ability to produce energy, affecting multiple organs and early death.
The study by Doctoral Researcher Rishi Banerjee focused on using gene therapy, a technique that introduces healthy copies of genes into cells to fix problems. In experiments with mice that have GRACILE syndrome, researchers found that targeting the liver with gene therapy could dramatically improve the animals' health. The treated mice lived longer, maintained normal body temperatures, and had better control over their blood sugar levels.
One surprising finding was the role of the liver in regulating body temperature. Normally, tissues like brown fat and muscle help keep the body warm, but in the sick mice, these tissues weren't working properly. After gene therapy, the liver metabolism was able to produce enough heat to keep the mice warm, showing that fixing the energy production of the liver can compensate when other systems fail.
This research offers hope for future treatments of GRACILE syndrome and similar mitochondrial diseases, suggesting that even if only one organ can be treated, significant health improvements are possible.
Doctoral Researcher Rishi Banerjee will defend his thesis, titled “Novel Disease Mechanisms and Effects of Gene Therapy in Mouse Models of Neonatal Mitochondrial Complex III Deficiency”, on May 16, 2025, at Biomedicum Helsinki.