Confocal images of immunohistochemically analyzed zebrafish cartilage sections from fli1a:EGFP-positive larvae show that heparan sulfate levels (red) are locally decreased in mutant larvae as early as 4 dpf. WGA, blue. Scale bar: 10 µm. (D) Similar analyses of chondroitin sulfate (red) also showed local alterations in mutant cartilages, including lower levels of cell surface chondroitin sulfate that are matched by increased intracellular staining. This was evident in both the ceratohyal and Meckel's cartilages. Arrowheads show regions of cell surface CS staining in wild-type larvae, but intracellular CS in mutant larvae. Scale bar: 10 µm.

In this issue we have 2 Research papers on mucopolysaccharidosis type IVA - a rare, progressive, inherited #LysosomalStorageDisorder caused by a deficiency of the GALNS enzyme. It causes severe skeletal dysplasia, short stature, joint, respiratory, and heart issues

🧵 Research papers below

#DelayedDiagnosis of alpha-mannosidosis is common especially in mild cases, highlighting the need for early diagnosis to facilitate timely treatment bit.ly/4oTXxpC #GIMO #AlphaMannosidosis #LysosomalStorageDisorder #DiseaseSeverity #RareDisease #EnzymeReplacementTherapy

Scientists Link SPNS1 Mutations to Rare Multi-Organ Disease

Researchers have linked rare SPNS1 gene mutations to a newly identified multi‑organ disease, publishing the findings in the Journal of Clinical Investigation. getnews.me/scientists-link-spns1-mu... #spns1 #lysosomalstoragedisorder #precisionmedicine

My 2yo son has a rare genetic disorder called #nephropathicCystinosis this is considered a #lysosomalstoragedisorder meaning his cells don’t properly dispose of a protein called cystine and when that builds up it creates crystals which cause organ damage. #caretaker #raredisease #momlife #cystinosis