Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
23
pubmed:dateCreated
1999-12-13
pubmed:abstractText
Lowe syndrome is an X-linked disorder that has a complex phenotype that includes progressive renal failure and blindness. The disease is caused by mutations in an inositol polyphosphate 5-phosphatase designated OCRL. It has been shown that the OCRL protein is found on the surface of lysosomes and that a renal tubular cell line deficient in OCRL accumulated substrate phosphatidylinositol 4, 5-bisphosphate. Because this lipid is required for vesicle trafficking from lysosomes, we postulate that there is a defect in lysosomal enzyme trafficking in patients with Lowe syndrome that leads to increased extracellular lysosomal enzymes and might lead to tissue damage and contribute to the pathogenesis of the disease. We have measured seven lysosomal enzymes in the plasma of 15 patients with Lowe syndrome and 15 age-matched male controls. We find a 1.6- to 2.0-fold increase in all of the enzymes measured. When the data was analyzed by quintiles of activity for all of the enzymes, we found that 95% of values in the lowest quintile come from normal subjects whereas in the highest quintile 85% of the values are from patients with Lowe syndrome. The increased enzyme levels are not attributable to renal insufficiency because there was no difference in enzyme activity in the four patients with the highest creatinine levels compared with the six patients with the lowest creatinine values.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/10557322-10364223, http://linkedlifedata.com/resource/pubmed/commentcorrection/10557322-10364518, http://linkedlifedata.com/resource/pubmed/commentcorrection/10557322-1321346, http://linkedlifedata.com/resource/pubmed/commentcorrection/10557322-2017228, http://linkedlifedata.com/resource/pubmed/commentcorrection/10557322-6342190, http://linkedlifedata.com/resource/pubmed/commentcorrection/10557322-6766092, http://linkedlifedata.com/resource/pubmed/commentcorrection/10557322-7573041, http://linkedlifedata.com/resource/pubmed/commentcorrection/10557322-7761412, http://linkedlifedata.com/resource/pubmed/commentcorrection/10557322-8504307, http://linkedlifedata.com/resource/pubmed/commentcorrection/10557322-8599350, http://linkedlifedata.com/resource/pubmed/commentcorrection/10557322-9199559, http://linkedlifedata.com/resource/pubmed/commentcorrection/10557322-9430698, http://linkedlifedata.com/resource/pubmed/commentcorrection/10557322-9593760, http://linkedlifedata.com/resource/pubmed/commentcorrection/10557322-9682219, http://linkedlifedata.com/resource/pubmed/commentcorrection/10557322-9788721
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0027-8424
pubmed:author
pubmed:issnType
Print
pubmed:day
9
pubmed:volume
96
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
13342-4
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Increased levels of plasma lysosomal enzymes in patients with Lowe syndrome.
pubmed:affiliation
Department of Internal Medicine, Division of Hematology, Washington University School of Medicine, St. Louis, MO 63110, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.