Researchers Outsmart the Immune System to Treat Rare Genetic Disease in Mice

Saint Louis University researchers have identified a potential approach to treating Morquio A syndrome, a rare, progressive and debilitating genetic disease. The research by a multi-disciplinary team was conducted in a mouse model and reported in the Journal of Clinical Investigation.  

Morquio A Sydrome is an inherited metabolic disorder known as a lysosomal storage disorder, in which toxic materials in the body’s cells accumulate because the body doesn’t make enough of the GALNS enzyme. 

The current treatment is enzyme replacement therapy, which can cause adverse side effects. Researchers found that feeding mice oral GALNS before enzyme replacement therapy reset the body’s immune system to decrease the accumulation of toxins in the body. The therapy has not been tested in humans. 

“This model could be extrapolated to other lysosomal storage disorders where the immune response hinders the effectiveness of enzyme replacement therapy,” said Adriana Montano, Ph.D., associate professor of pediatrics at Saint Louis University, who led the research team. 

Scientists from SLU’s Departments of Pediatrics, Biochemistry and Molecular Biology, Molecular Immunology and Microbiology, Pathology, Internal Medicine and Center for Health Outcomes Research worked together on this project. 

Established in 1836, Saint Louis University School of Medicine has the distinction of awarding the first medical degree west of the Mississippi River. The school educates physicians and biomedical scientists, conducts medical research, and provides health care on a local, national and international level. Research at the school seeks new cures and treatments in five key areas: infectious disease, liver disease, cancer, heart/lung disease, and aging and brain disorders.

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