Source:http://linkedlifedata.com/resource/pubmed/id/17950741
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
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| pubmed:dateCreated |
2008-3-31
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| pubmed:abstractText |
We report a large family in which four members showed a plasma lipid profile consistent with the clinical diagnosis of familial combined hyperlipidemia (FCHL). One of these patients was found to have markedly reduced HDL cholesterol (HDL-C) (0.72 mmol/l) and Apo A-I (72 mg/dl) levels, a condition suggestive of the presence of a mutation in one of the HDL-related genes. The analysis of APOA1 gene revealed that this patient was heterozygous for a cytosine insertion in exon 3 (c.49-50 ins C), resulting in a frame-shift and premature stop codon at position 26 of pro-Apo A-I (Q17PFsX10). This novel mutation, which prevents the synthesis of Apo A-I, was also found in four family members, including three siblings and the daughter of the proband. Carriers of Apo A-I mutation had significantly lower HDL-C and Apo A-I than non-carriers family members (0.77+/-0.15 mmol/l vs. 1.15+/-0.20 mmol/l, P<0.005; 71.4+/-9.1mg/dl vs. 134.0+/-14.7 mg/dl, P<0.005, respectively). Two of the APOA1 mutation carriers, who were also heavy smokers, had fibrous plaques in the carotid arteries causing mild stenosis (20%). The intimal-media thickness in the two other adult carriers was within the normal range. The other non-carriers family members with FCHL had either overt vascular disease or carotid atherosclerosis at ultrasound examination. This observation suggests that the low HDL-C/low Apo A-I phenotype may result from a genetic defect directly affecting HDL metabolism, even in the context of a dyslipidemia which, like FCHL, is associated with low plasma HDL-C.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Apolipoprotein A-I,
http://linkedlifedata.com/resource/pubmed/chemical/Apolipoproteins B,
http://linkedlifedata.com/resource/pubmed/chemical/Cholesterol, HDL,
http://linkedlifedata.com/resource/pubmed/chemical/Codon, Nonsense,
http://linkedlifedata.com/resource/pubmed/chemical/Lipids,
http://linkedlifedata.com/resource/pubmed/chemical/PCSK9 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Receptors, LDL,
http://linkedlifedata.com/resource/pubmed/chemical/Serine Endopeptidases
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| pubmed:status |
MEDLINE
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| pubmed:month |
May
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| pubmed:issn |
1879-1484
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| pubmed:author | |
| pubmed:issnType |
Electronic
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| pubmed:volume |
198
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
145-51
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| pubmed:meshHeading |
pubmed-meshheading:17950741-Adult,
pubmed-meshheading:17950741-Aged,
pubmed-meshheading:17950741-Apolipoprotein A-I,
pubmed-meshheading:17950741-Apolipoproteins B,
pubmed-meshheading:17950741-Carotid Artery Diseases,
pubmed-meshheading:17950741-Cholesterol, HDL,
pubmed-meshheading:17950741-Codon, Nonsense,
pubmed-meshheading:17950741-Esterification,
pubmed-meshheading:17950741-Family Health,
pubmed-meshheading:17950741-Female,
pubmed-meshheading:17950741-Frameshift Mutation,
pubmed-meshheading:17950741-Humans,
pubmed-meshheading:17950741-Hyperlipidemia, Familial Combined,
pubmed-meshheading:17950741-Lipids,
pubmed-meshheading:17950741-Male,
pubmed-meshheading:17950741-Middle Aged,
pubmed-meshheading:17950741-Pedigree,
pubmed-meshheading:17950741-Receptors, LDL,
pubmed-meshheading:17950741-Serine Endopeptidases,
pubmed-meshheading:17950741-Smoking
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| pubmed:year |
2008
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| pubmed:articleTitle |
A novel mutation of the apolipoprotein A-I gene in a family with familial combined hyperlipidemia.
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| pubmed:affiliation |
Department of Internal Medicine, University of Genoa, Viale Benedetto XV 6, I-16132 Genoa, Italy.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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