Familial Plasma Cholesterol Ester Deficiency a study of the erythrocytes

Gjone, E; Torsvik, Harald; Norum, Kaare R.

doi:10.3109/00365516809077001

Cited by 69 publications

(15 citation statements)

References 17 publications

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“…When compared with adult erythrocytes, phospholipid distribution in neonatal erythrocytes shows lower percentages of phosphatidyl choline and phosphatidyl ethanolamine coupled with increased percentages of sphingomyelin and combined phosphatidyl serine + phosphatidyl inositol [22]. The possible influence of decreased plasma levels of lecithin-cholesterol acyl transferase (LCAT) on erythrocyte membrane lipid composition has been emphasized both in patients with obstructive jaundice and in patients with a congenital deficiency of this enzyme [7,11]. The LCAT catalyzes the transfer of one fatty acid from lecithin to unesterified cholesterol, resulting in the formation of lysolecithin and cholesterol ester [12].…”

Section: Discussionmentioning

confidence: 99%

“…Thus it would appear unlikely that the lower levels of LCAT in neonatal serum are instrumental in influencing the normal erythrocyte lipid pattern significantly. Indeed, if decreased LCAT were an important factor in the normal neonate, an increased level of erythrocyte phosphatidyl choline, rather than a decreased level, wotdd be anticipated, as is seen in patients with obstructive jaundice or familial absence of LCAT [7,11,23].…”

Section: Discussionmentioning

confidence: 99%

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Alteration of Adult Erythrocyte Lipids during In Vivo Fetal Circulation

Neerhout¹

1971

Pediatr Res

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Alteration of Adult Erythrocyte Lipids during In Vivo Fetal Circulation

Neerhout¹

1971

Pediatr Res

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“…The morphology and surface area of red cells made cholesterol-rich in vitro differ in two respects from spur In obstructive jaundice of long duration and in familial LCAT deficiency, abnormal lipoprotein particles accumulate in plasma, consisting primarily, if not exclusively, of phospholipid (mainly lecithin) and cholesterol in a C/P close to 1.0 (34,35), and, like patients with cirrhosis, these patients have targeted red cells rich in both cholesterol and lecithin (4,33,36). While the current studies explain the accumulation of cholesterol by red cells incubated with liposomes or lipoproteins disproportionately rich in free cholesterol, they do not shed light on the mechanism of accumulation of lecithin in cirrhosis, obstructivjaundice, and familial LCAT deficiency.…”

Section: Discussionmentioning

confidence: 99%

Modification of red cell membrane structure by cholesterol-rich lipid dispersions. A model for the primary spur cell defect.

Cooper¹,

Arner²,

Wiley³

et al. 1975

J. Clin. Invest.

342

138

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A B S T R A C T Cholesterol-rich membranes are the hallmark of "spur" red cells. Spur cells accumulate cholesterol from cholesterol-rich serum lipoproteins. Previous studies suggested that this added cholesterol is responsible for both the altered morphology and the destruction of spur cells. To examine this process in the absence of other serum factors, cholesterol-lecithin dispersions with varying amounts of unesterified cholesterol (C) relative to phospholipid (P) were prepared, and their influence on normal human red cells was studied.Cholesterol-rich lipid dispersions (C/P mole ratio > 1.0) transferred cholesterol to both red cell membranes and serum lipoproteins, and cholesterol-poor dispersions (C/P mole ratio < 1.0) depleted red cells of cholesterol. Changes in membrane cholesterol paralleled changes in membrane surface area, as calculated from osmotic fragility, with a 0.22% variation in surface area per 1.0% variation in cholesterol content. Cold-induced compression of membrane surface area was increased in cholesterol-poor red cells (C/P = 0.4), whereas the surface area of cholesterol-rich membranes (C/P = 1.80) underwent no compression. Although the Na and K permeability of red cells severely depleted of cholesterol was increased, lesser degrees of depletion had no effect, and the permeability of cholesterol-rich cells was normal. However, increasing membrane cholesterol caused a progressive decrease in red cell deformability, as measured by filtration.Cholesterol-poor red cells were spherocytic in appearance and cholesterol-rich cells were broad and flat, indicative of their surface areas. In addition, cholesterol-

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“…This disease is characterized by corneal infiltration, anemia, and proteinuria, by several plasma lipoprotein abnormalities, and by absence or near absence of plasma lecithin: cholesterol acyltransferase (LCAT) activity. The disease has been provisionally named familial LCAT deficiency (1) because the lipid abnormalities that seem to be most significant, viz., the unusually low levels of cholesteryl ester and lysolecithin in plasma (1,3) and the unusually high levels of unesterified cholesterol and lecithin in plasma and erythrocytes (1,3,4), appear to be caused by the enzyme deficiency. Nevertheless, many features of the disease remain to be explained or even described at the molecular level.…”

Section: Introductionmentioning

confidence: 99%

Plasma lipoproteins in familial lecithin:cholesterol acyltransferase deficiency: lipid composition and reactivity in vitro

Glomset¹,

Norum²,

King³

1970

J. Clin. Invest.

188

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A B S T R A C T Plasma lipoproteins from patients with familial lecithin: cholesterol acyltransferase (LCAT) deficiency have been fractionated by preparative ultracentrifugation and gel filtration and their lipid content and reactivity studied. All of the lipoproteins are abnormal with respect to lipid concentration or relative lipid content. The low density lipoproteins (LDL) and high density lipoproteins (HDL) appear to react normally with partially purified LCAT from normal plasma. Also, the lipids of the very low density lipoproteins (VLDL) and LDL, like those of the corresponding lipoproteins of normal plasma, are indirectly altered by the action of LCAT on normal HDL. Thus, during incubation in vitro VLDL cholesteryl ester is increased and VLDL triglyceride is decreased, as described by others for VLDL from hyperlipemic plasma, and both the unesterified cholesterol and lecithin of the VLDL and LDL are decreased. The patients' VLDL and LDL are abnormal, however, in that they lose unesterified cholesterol and lecithin to normal HDL in the absence of LCAT. Also, the patients' HDL lose these lipids to erythrocyte membranes in the absence of the enzyme.Our results provide further evidence that the abnormal cholesterol and phospholipid composition of the patients' lipoproteins is caused by the LCAT deficiency. They support the postulate that an excess of unesterified cholesterol and lecithin develops as VLDL are converted to LDL and HDL and suggest that in the absence of LCAT this excess lipid distributes among plasma lipoproteins and plasma membranes.

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Familial Plasma Cholesterol Ester Deficiency a study of the erythrocytes

Cited by 69 publications

References 17 publications

Alteration of Adult Erythrocyte Lipids during In Vivo Fetal Circulation

Alteration of Adult Erythrocyte Lipids during In Vivo Fetal Circulation

Modification of red cell membrane structure by cholesterol-rich lipid dispersions. A model for the primary spur cell defect.

Plasma lipoproteins in familial lecithin:cholesterol acyltransferase deficiency: lipid composition and reactivity in vitro

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