Cystinosis distal myopathy, novel clinical, pathological and genetic features

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Cystinosis is a lysosomal storage disease with an estimated prevalence of 0.5–1 per 100,000 live births [1]. It is a recessive disease with complete penetrance, caused by mutations in CTNS [2]. The product of CTNS is cystinosin, a ubiquitously expressed lysosomal transporter. Cystinosin is necessary for the transport of cystine (which is the oxidised dimer form of the amino-acid cysteine) from the lysosomal lumen to the cytoplasm, where it is reduced to cysteine. The defective cystinosin protein leads to accumulation and crystallization of cystine in the lysosome, but how this causes the tissue damage and leads to the development of the typical clinical symptoms is not well understood [1].

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