Tissue and cell-type dependent impact of secondary glucocerebrosidase abnormalities due to LIMP-2 deficiency

Sphingolipidoses comprise the most prevalent group of lysosomal storage disorders. The most frequent is Gaucher disease (GD), where it occurs the storage of the glycosphingolipid glucosylceramide (GlcCer) due to a deficiency in the enzyme glucocerebrosidase (GCase). GD is a multi-systemic disorder affecting most organs, resulting in cytopenia, hepatosplenomegaly and skeletal abnormalities. Only recently, lysosomal integral membrane protein, type 2 (LIMP-2) has been identified as the receptor involved in the intracellular sorting and trafficking of the enzyme GCase to lysosomes. Deficiency of LIMP-2 causes Action Myoclonic-Renal Failure (AMRF), which clinically differs from GD. AMRF patients present renal dysfunction and failure, myoclonic epilepsy and ataxia with progressive neurological impairment .

Palavras-chave

Doenças Lisossomais de Sobrecarga Doenças Genéticas Proteinas de Membrana LIMP-2 AMRF

URI

http://hdl.handle.net/10400.18/5527

Coleções

DGH - Posters/abstracts em congressos internacionais

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