title: Phospholipids accumulation in mucolipidosis IV cultured fibroblasts.
abstract: Cultured fibroblasts from mucolipidosis IV patients accumulated phospholipids when compared to normal controls or cells from other genotypes. The major stored compounds were identified as phosphatidylcholine, phosphatidylethanolamine and to a larger extent lysophosphatidylcholine and lysobisphosphatidic acid. Pulse chase experiments of 32P-labelled phospholipids showed increased retention of these compounds in the mucolipidosis IV lines throughout the pulse and chase periods. Phospholipase A1, A2, C, D and lysophospholipase showed normal activity in the mucolipidosis IV lines and thus the metabolic cause for this storage remains to be identified.
mesh_terms: D002478:Cells, Cultured; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D009081:Mucolipidoses / Q000378:metabolism*; D009439:Neuraminidase / Q000032:analysis; D010743:Phospholipids / Q000378:metabolism*
chemical_list: D010743:Phospholipids; C036052:GM3 ganglioside sialidase; D009439:Neuraminidase