A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis.

A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis. Research Abstract Details 

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A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis. Abstract Text:

Tetsu Ebara,Yoriko Endo,Shouichi Yoshiike,Masatomi Tsuji,Susumu Taguchi,Toshio Murase,Minoru Okubo,Tetsu Ebara,Yoriko Endo,Shouichi Yoshiike,Masatomi Tsuji,Susumu Taguchi,Toshio Murase,Minoru Okubo,

BACKGROUND: Familial lipoprotein lipase (LPL) deficiency is a rare autosomal recessive disorder caused by mutations in the LPL gene. Patients with LPL deficiency have chylomicronemia; however, whether they develop accelerated atherosclerosis remains unclear. METHODS: We investigated clinical and mutational characteristics of a 60-y-old Japanese patient with chylomicronemia. RESULTS: The patient's fasting plasma triglyceride levels were >9.0 mmol/l. In postheparin plasma, one fifth of the normal LPL protein mass was present; however, LPL activity was undetectable. Molecular analysis of the LPL gene showed the patient to be a homozygote of missense mutation replacing glycine with glutamine at codon 188 (G188E), which had been known to produce mutant LPL protein lacking lipolytic activity. Ultrasonographic examination of the patient's carotid and femoral arteries showed no accelerated atherosclerosis. Moreover, 64-slice mechanical multidetector-row computer tomography (MDCT) angiography did not detect any accelerated atherosclerotic lesions in the patient's coronary arteries. The patient had none of the risk factors such as smoking, hypertension, and diabetes. CONCLUSIONS: Our case suggests that accelerated atherosclerosis may not develop in patients with LPL deficiency, when they have no risk factors.

A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis. Publishing Authors By Initials

T Ebara,Y Endo,S Yoshiike,M Tsuji,S Taguchi,T Murase,M Okubo,T Ebara,Y Endo,S Yoshiike,M Tsuji,S Taguchi,T Murase,M Okubo,

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A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Clinica chimica acta; international journal of cli

VOLUME: 386

Page Numbers: 100-4

Journal Abbreviation: Clin. Chim. Acta

ISSN: 0009-8981

DAY: 1

MONTH: 09

YEAR: 2007

A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis. Information

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LANGUAGE: eng

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AFFILIATION: Okinaka Memorial Institute for Medical Research, 2-2-2 Toranomon, Tokyo 105-8470, Japan.

Country: Netherlands

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MEDLINETA: Clin Chim Acta

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