Cystinosis (lysosomal =degradative organel storage disorder)
11 important questions on Cystinosis (lysosomal =degradative organel storage disorder)
What is the conclusion on PM for cystinosis?
- There are symptom treatments for renal Fanconi Syndrome > early treatment better prognosis of renal failure
- Diagnosis can be made at any age
- Mechanisms of the disease are not fully known
- Better models and clinical trials are needed.
Which gen is mutated in cystinosis? What happens?
Lysosomal cystinosin (17p13) => huge amount of different mutations which makes it difficult to treat with CRISPR (>160)
=> autosomal recessive
Cystine normally leaves the lysosome. For this action it needs cyst
What kind of symptoms do people have with cystinosis? What is the first organ to be affected?
In the end all organs can be affected with all kinds of problems (infertility, myopathy etc) = systemic disease
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Why is the kidney the first organ to be affected?
- Proteins should be degradated into amino acids and then leave the lysosome.
- This does not happen > build up of cystine.
- The cells in the proximal tubule are vulnerable for this problem.
- They don't reabsorb molecules for the tubulus so you loose good nutrients (amino acids, salts, small proteins, glucose, vitamines) and by osmosis you loose a lot of urine.
- Renal Fanconi syndrome
Which three kidney disease mechanisms go with cystinosis?
- Inflammation and scare formation
- Kidney filter disease
- Proximal tubule disease
What are clinical symptoms of Fanconi syndrome? Also used for diagnosis.
Muscle and bone weakness
In what cells do they measure elevated levels of cystine?
A therapy is giving cysteamine. Why?
You can make models with what as goal?
- Gene and RNA therapy
- Drug discovery and tests
- Disease mechanism
Why is it such a problem that you loose podocytes?
- Podocytes are terminally differentiated cells and cannot regenerate! => cause of death.
- Loss of adherence => loss of glomerulus function => measure adherence with paxillin
Are there RNA-based therapeutics for cystinosis?
RNA loaded lipid based nanoparticle. With the correct CTNS gene
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