Nephrotic syndrome - scarb2 associated
Definition[edit | edit source]
Nephrotic syndrome attributed to mutation(s) in the scarb2 gene.
Other names[edit | edit source]
Action myoclonus–renal failure (AMRF) syndrome
The SCARB2 gene[edit | edit source]
The SCARB2 gene(scavenger receptor class B member 2) provides instructions for making a protein called lysosomal integral membrane protein-2 (LIMP-2).
Function of LIMP-2[edit | edit source]
- This protein is primarily found in the membrane of cellular structures called lysosomes, where it attaches to an enzyme called beta-glucocerebrosidase and transports it to the lysosome.
- In lysosomes, beta-glucocerebrosidase breaks down a fatty substance called glucocerebroside.
- The LIMP-2 protein remains in the lysosomal membrane after transporting beta-glucocerebrosidase and is important for the stability of these structures.
Pathophysiology[edit | edit source]
At least 20 mutations in the SCARB2 gene have been associated with action myoclonus–renal failure (AMRF) syndrome.
Symptoms[edit | edit source]
It causes episodes of involuntary muscle jerking or muscle twitching, particularly when trying to make intentional movements (action myoclonus). Another common feature of AMRF syndrome is kidney (renal) disease.
Mechanism[edit | edit source]
SCARB2 gene mutations associated with AMRF syndrome lead to production of an altered LIMP-2 protein that is stuck in the endoplasmic reticulum and cannot get to the lysosome. As a result, the movement of beta-glucocerebrosidase to lysosomes is impaired. It is thought that a shortage of beta-glucocerebrosidase in these structures contributes to the signs and symptoms of AMRF syndrome, although the mechanism is unclear.
Latest articles - Nephrotic syndrome - scarb2 associated
Further reading[edit | edit source]
- Genetic causes of proteinuria and nephrotic syndrome: Impact on podocyte pathobiology
- Genetics of hereditary nephrotic syndrome: a clinical review
- Genetic Basis of Steroid Resistant Nephrotic Syndrome
- Familiar forms of nephrotic syndrome
- A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome
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