Immune cell inflammation may be responsible for some severe symptoms in lysosomal storage diseases

Researchers at The Hospital for Sick Children (SickKids) have found that inflammation in an immune cell may be responsible in part for some severe symptoms in a group of rare genetic conditions called lysosomal storage diseases (LSDs). LSDs affect about one in 7,700 live births worldwide. Children with the condition typically present at a young age with progressive neurodegeneration.

Many children with LSDs die prematurely, and current treatments focus on symptom management. Until now, the role of macrophages in the immune system and LSDs was not well known, but new research published in Nature Cell Biology led by Drs. Spencer Freeman, a Scientist in the Cell Biology program, Ruiqi Cai, a senior postdoctoral fellow and the first author of the study, and Ori Scott, a Transition Clinician Scientist in the Cell Biology program and a Staff Physician in the Division of Immunology & Allergy, identified that macrophage inflammation may contribute to LSD symptoms.

Macrophage cells take in and digest a large amount of nutrients to aid in the regular function of the immune system. To break down and recycle these nutrients, the cells rely on tiny organelles called lysosomes. When functional, a lysosome can break down large sugars into small sugars, which are then used as an energy source.

In LSDs, these macrophage lysosomes become swollen and filled with waste. On the publication of these findings, Freeman, Cai and Scott share how LSDs affect the immune system and how reducing inflammat.