Marked high density lipoprotein deficiency due to apolipoprotein A-I Tomioka (codon 138 deletion).
Atherosclerosis
; 207(1): 157-61, 2009 Nov.
Article
en En
| MEDLINE
| ID: mdl-19473658
We report a novel apolipoprotein A-I (apoA-I) mutation identified in a 64-year-old patient with marked plasma high density lipoprotein (HDL) cholesterol (4 mg/dl) and apoA-I (5mg/dl) deficiency, prior myocardial infarction, and moderate corneal opacities. Coronary angiography revealed extensive atherosclerosis in all three major vessels. Genomic DNA sequencing of the proband revealed a homozygous novel deletion of two successive adenine residues in codon 138 in the apoA-I gene, resulting in a frameshift mutation at amino acid residues 138-178, which we have designated as apoA-I Tomioka. His elder brother was also homozygous for apoA-I Tomioka with marked HDL cholesterol and apoA-I deficiency, but had no clinical evidence of coronary heart disease. Other family members including three siblings and two sons were heterozygous for the mutation, and had approximately 50% of normal plasma HDL cholesterol, and apoA-I. Analysis of apoA-I-containing HDL particles by two-dimensional gel electrophoresis revealed undetectable apoA-I HDL particles in the homozygotes, while in heterozygotes, the mean concentrations of apoA-I in large alpha-1 and very small prebeta-1 HDL subpopulations were significantly decreased at about 35% of normal. Thus, apoA-I Tomioka, a novel deletion mutation in codon 138 of the apoA-I gene, is the causative defect in this case of HDL deficiency.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedad de la Arteria Coronaria
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Mutación del Sistema de Lectura
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Apolipoproteína A-I
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Eliminación de Secuencia
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Hipolipoproteinemias
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HDL-Colesterol
Tipo de estudio:
Prognostic_studies
Límite:
Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Atherosclerosis
Año:
2009
Tipo del documento:
Article
País de afiliación:
Japón
Pais de publicación:
Irlanda