Mucolipidosis type IV
https://www.cell.com/molecular-therapy-family/methods/fulltext/S2329-0501(25)00074-9
Mucolipidosis Type IV (MLIV) is a rare genetic disease that affects brain function, movement, and vision. While new therapies are being developed, the field lacks a molecular signature (biomarker) of the disease that can help monitor disease severity and treatment effects. This study looked at blood proteins in 17 individuals with MLIV and 37 healthy controls to find biomarkers of MLIV. Researchers found that individuals with MLIV have a distinct blood protein profile reflecting disease symptoms. Notably, GABARAP and S100A6 protein levels correlate with motor functions. While findings need further validation in a larger cohort, they open the door to further studies using blood samples.