Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking

• Type: Article in International Scientific Journal
• Date: 2015

Authors

Coutinho, MF (Author) Other; Lacerda, L (Author) Other; Pinto, E (Author) Other; Ribeiro, H (Author) Other; Macedo Ribeiro, S (Author) Other; Castro, L (Author) Other; Prata, MJ (Author) FCUP; Alves, S (Author) Other

Journal

Title: Clinical Genetics

Vol. 88

Pages: 190-194

ISSN: 0009-9163

Publisher: Wiley-Blackwell

Indexing

ISI Web of Knowledge - 3 Citations

Scopus - 4 Citations

Scientific classification

FOS: Natural sciences > Earth and related Environmental sciences

Other information

Authenticus ID: P-00G-CS5

DOI: 10.1111/cge.12469

Abstract (EN): The newly-synthesized lysosomal enzymes travel to the trans-Golgi network (TGN) and are then driven to the acidic organelle. While the best-known pathway for TGN-to-endosome transport is the delivery of soluble hydrolases by the M6P receptors (MPRs), additional pathways do exist, as showed by the identification of two alternative receptors: LIMP-2, implicated in the delivery of -glucocerebrosidase; and sortilin, involved in the transport of the sphingolipid activator proteins prosaposin and GM2AP, acid sphingomyelinase and cathepsins D and H. Disruption of the intracellular transport and delivery pathways to the lysosomes may result in lysosomal dysfunction, predictably leading to a range of clinical manifestations of lysosomal storage diseases. However, for a great percentage of patients presenting such manifestations, no condition is successfully diagnosed. To analyse if, in this group, phenotypes could be determined by impairments in the known M6P-independent receptors, we screened the genes that encode for LIMP-2 and sortilin. No pathogenic mutations were identified. Other approaches will be needed to clarify whether sortilin dysfunction may cause disease.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 5