Data di Pubblicazione:
2008
Citazione:
The biochemical and cardiovascular consequences of LCAT deficiency / L. Calabresi, D. Baldassarre, E. Moleri, P. Conca, S. Castelnuovo, G. Franceschini. - In: ATHEROSCLEROSIS. - ISSN 0021-9150. - 9:1(2008), pp. 29-29. ((Intervento presentato al 77. convegno EUROPEAN ATHEROSCLEROSIS SOCIETY (EAS) CONGRESS tenutosi a Istanbul (Turkey) nel 2008.
Abstract:
We have recently identified 14 Italian families with LCAT deficiency,
carrying 19 different mutations in the LCAT gene. All carriers of two
mutant LCAT alleles (n=17) had remarkably low plasma HDL-C, apoA-I,
and apoA-II levels, associated with multiple alterations in HDL structure
and particle distribution, with a selective depletion of LpAI:A-II particles,
a predominance of small, pre-beta-migrating HDL and a complete lack
of HDL2. Unesterified cholesterol, the unesterified/total cholesterol ratio,
VLDL-cholesterol, and triglycerides were significantly elevated, whereas
apoB was significantly lower compared to controls. Twenty-three out of 44
carriers of one mutant LCAT allele (53%) had a low plasma HDL-C; the
average plasma HDL-C and apoA-I levels were significantly lower than
in controls. Plasma LCAT activity was also significantly lower than in
controls. Despite the atherogenic profile, only one of the 17 carriers of two
mutant LCAT alleles, a 71 y.o. man with elevated LDL-C, hypertension, and
diabetes, presented with premature coronary artery disease. The evaluation
of carotid intima-media thickness (IMT) showed that carriers of two mutant
LCAT alleles have IMT values comparable to age-sex matched controls,
despite the severe hypoalphalipoproteinemia. Carriers of one mutant LCAT
allele have widely distributed IMT values, showing on average IMT values
comparable to controls. In a large series of subjects carrying mutations
in the LCAT gene, the inheritance of a mutated LCAT genotype causes
a gene-dose-dependent alteration in the plasma lipid/lipoprotein profile.
No premature cardiovascular disease and no increase in carotid IMT
was observed, despite the hypoalphalipoproteinemia, in the Italian LCAT
deficient subjects.
Tipologia IRIS:
01 - Articolo su periodico
Elenco autori:
L. Calabresi, D. Baldassarre, E. Moleri, P. Conca, S. Castelnuovo, G. Franceschini
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