Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
THE LIPOPROTEIN-LIPASE (ASN291-]SER) MUTATION IS ASSOCIATED WITH ELEVATED LIPID-LEVELS IN FAMILIES WITH FAMILIAL COMBINED HYPERLIPIDEMIA
Autore:
HOFFER MJV; BREDIE SJH; BOOMSMA DI; REYMER PWA; KASTELEIN JJP; DEKNIJFF P; DEMACKER PNM; STALENHOEF AFH; HAVEKES LM; FRANTS RR;
Indirizzi:
LEIDEN UNIV,MGC DEPT HUMAN GENET,POB 9503 2300 RA LEIDEN NETHERLANDS UNIV NIJMEGEN HOSP,DIV GEN INTERNAL MED,DEPT MED 6500 HB NIJMEGEN NETHERLANDS FREE UNIV AMSTERDAM,DEPT PSYCHOPHYSIOL AMSTERDAM NETHERLANDS ACAD MED CTR,DEPT VASC MED AMSTERDAM NETHERLANDS TNO,INST PREVENT & HLTH RES,GAUBIUS LAB LEIDEN NETHERLANDS
Titolo Testata:
Atherosclerosis
fascicolo: 2, volume: 119, anno: 1996,
pagine: 159 - 167
SICI:
0021-9150(1996)119:2<159:TL(MIA>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
HIGH-DENSITY LIPOPROTEIN; MISSENSE MUTATION; PEDIGREE ANALYSIS; APOLIPOPROTEIN-B; CHOLESTEROL; DEFICIENCY; INHERITANCE; PLASMA; SERUM; DNA;
Keywords:
LIPOPROTEIN LIPASE; FAMILIAL COMBINED HYPERLIPIDEMIA; LPL(ASN291-]SER) MUTATION; TRIGLYCERIDES; CHOLESTEROL;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
31
Recensione:
Indirizzi per estratti:
Citazione:
M.J.V. Hoffer et al., "THE LIPOPROTEIN-LIPASE (ASN291-]SER) MUTATION IS ASSOCIATED WITH ELEVATED LIPID-LEVELS IN FAMILIES WITH FAMILIAL COMBINED HYPERLIPIDEMIA", Atherosclerosis, 119(2), 1996, pp. 159-167

Abstract

Familial combined hyperlipidaemia (FCHL) is one of the major genetic causes of coronary heart disease (CHD) and is characterised by elevated levels of plasma cholesterol and/or triglycerides in individuals within a single family. Decreased lipoprotein lipase (LPL) activity has been found in some cases of FCHL. A recent study revealed a common mutation in the LPL gene, LPL(Asn291 --> Ser), with a frequency of 9.3% inDutch FCHL patients (Reymer et al., Circulation, 90 (1994) I-998). This mutation was found in 3 out of 17 FCHL families. Extensive family studies were subsequently performed to determine the effect of this mutation on the phenotypic expression of FCHL. Using a pedigree-based maximum likelihood estimate, we demonstrated that the LPL(Asn291 --> Ser)mutation significantly affects the levels of plasma and very low density lipoprotein (VLDL) triglycerides (2.03 +/- 0.21 vs. 1.14 +/- 0.13 and 1.21 +/- 0.16 vs. 0.62 +/- 0.09 mmol/l, carriers and non-carriers,respectively) and VLDL- and high density lipoprotein (HDL) cholesterol (0.83 +/- 0.10 vs. 0.38 +/- 0.06 and 1.02 +/- 0.08 vs. 1.29 +/- 0.05mmol/l, carriers and non-carriers, respectively), but not those of plasma and low density lipoprotein (LDL) cholesterol. These findings indicate that the LPL(Asn291 --> Ser) mutation is associated with elevated lipid levels, indicating it may be one of the genetic factors predisposing to FCHL in the families studied.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/01/20 alle ore 09:03:48