Oxidative stress from cystine accumulation damages proteins and organelles in #cystinosis patients.
Interpretation: #Cystine creates toxic molecules that fry cell parts like mitochondria, worsening organ damage.
Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.
In #cystinosis patients: Proximal tubule cells are uniquely vulnerable due to high lysosomal activity.
Interpretation: Kidney cells have more lysosomes than other cells, so they’re hit hardest by #cystine buildup.
Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.
In #cystinosis patients: Lysosomal cystine disrupts cellular processes like autophagy, mTOR signaling, & redox balance.
Interpretation: #Cystine doesn’t just sit, it messes up cell recycling, growth signals, & antioxidant defenses.
Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.
The CTNS gene encodes #cystinosin, a protein responsible for transporting #cystine out of #lysosomes.
Interpretation: This gene provides instructions for how to clean up the cell; the mutation "breaks" this cleanup system.
Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.
Eye problems are often the first sign outside the kidneys- #cystine crystals can be seen in the cornea by 12-18 months with a special eye exam. 👀 So far Oliver is not showing these signs, but he needs the preventative eye drops anyways.
Source: Orphanet Journal of Rare Diseases, 🔗 in bio.
Illuminating lecture on #cystine stones #endourology treatment by @MattBultitude
Not all stones are the same ➡️ Hard vs soft stones
#DUST23 @dustcme
