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Abnormalities in plasma lipoprotein in familial partial lecithin:cholesterol acyltransferase deficiency

Kodama, T.; Akanuma, Y.; Okazaki, M.; Aburatani, H.; Itakura, H.; Takahashi, K.; Sakuma, M.; Takaku, F.; Hara, I.

Biochimica et Biophysica Acta 752(3): 407-415

1983


ISSN/ISBN: 0006-3002
PMID: 6871236
Accession: 042143912

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Abnormalities in plasma lipoproteins from patients with familial partial lecithin:cholesterol acyltransferase deficiency were studied. In these patients the plasma cholesterol ester ratio was about 40% and plasma apolipoprotein B level remained within the normal range. The content of large-sized low-density-lipoproteins (LDL) was low. Apolipoprotein B-100 and B-48 were detected in very-low-density lipoproteins (VLDL) and LDL in patients' plasma. In patients' LDL, apolipoprotein B-48 was primarily present in large-sized particles. Apolipoprotein E and A-I were mainly detected in intermediate-sized LDL. High-density lipoproteins (HDL) were separated into three fractions by gel permeation chromatography. Large-sized HDL particles (150-200 A) including discoidal particles contained apolipoproteins, E, A-IV and A-I. The content of discoidal HDL was low and, on electron micrograph, rouleau-formed particles were rarely seen. Normal-sized HDL (80-100 A) contained apolipoproteins A-I and A-II and small-sized HDL (about 60 A) contained only apolipoprotein A-I. Although several lipoprotein abnormalities were similar to those in classical familial lecithin:cholesterol acyltransferase deficiency, remaining lecithin:cholesterol acyltransferase activity may, however, cause a lack of reduction of apolipoprotein B level, a low level of large-sized LDL and also a low level of discoidal HDL.

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