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Decreased sodium influx and abnormal red cell membrane lipids in a patient with familial plasma lecithin:Cholesterol acyltransferase deficiency
Author(s) -
Murayama Naoki,
Asano Yasushi,
Hosoda Saichi,
Maesawa Masaji,
Saito Masaki,
Takaku Fumimaro,
Sugihara Takashi,
Miyashima Kosuke,
Yawata Yoshihito
Publication year - 1984
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830160205
Subject(s) - red cell , erythrocyte fragility , cholesterol , lecithin , endocrinology , acyltransferase , sterol o acyltransferase , medicine , sodium , cell membrane , membrane , biochemistry , chemistry , biology , enzyme , hemolysis , lipoprotein , organic chemistry
Red cell membrane metabolism in familial lecithin:cholesterol acyltransferase (LCAT) deficiency was investigated. The family presented here is the third case discovered in Japan. An increase of free cholesterol was observed in the red cell membranes, concomitant with increased phosphatidyl choline. Osmotic fragility of the patient's red cells was diminished rather than increased. Red cell survival ( 51 Cr T1/2) was shortened (15 days). Sodium influx was markedly decreased, although sodium efflux, both ouabain‐sensitive and ouabain‐insensitive, was normal. The activity of acetyl‐cholinesterase as a marker of the outer leaflet of the red cell membranes was decreased, while the activity of glyceraldehyde‐3‐phosphate dehydrogenase as a marker of the inner leaflet was normal. No abnormalities of adenosine triphosphatases in red cell membranes were observed. These results suggest that the alteration of cholesterol metabolism in the plasma of LCAT deficiency increases the red cell membrane cholesterol and affects the functions of the red cell membranes, especially of the outer leaflet, which may result in decreased sodium influx.