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Titolo:
Severe hypercholesterolemia in a double heterozygote for lipoprotein lipase deficiency (LPLArita) and apolipoprotein epsilon(4): A report of a familywith LPLArita
Autore:
Ando, H; Nishimura, Y; Nemoto, T; Takamura, T; Nagai, Y; Kobayashi, K;
Indirizzi:
Kanazawa Univ, Sch Med, Dept Internal Med 1, Kanazawa, Ishikawa 9208641, Japan Kanazawa Univ Kanazawa Ishikawa Japan 9208641 wa, Ishikawa 9208641, Japan Kanazawa Red Cross Hosp, Dept Internal Med, Kanazawa, Ishikawa 9218162, Japan Kanazawa Red Cross Hosp Kanazawa Ishikawa Japan 9218162 wa 9218162, Japan
Titolo Testata:
ENDOCRINE JOURNAL
fascicolo: 1, volume: 48, anno: 2001,
pagine: 113 - 118
SICI:
0918-8959(200102)48:1<113:SHIADH>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
COMBINED HYPERLIPIDEMIA; HEART-DISEASE; LIPID-LEVELS; POPULATION; EXPRESSION; MENOPAUSE; FREQUENCY; MUTATION; PROTEIN; RISK;
Keywords:
lipoprotein lipase deficiency; LPLArita; hypercholesterolemia; low-density lipoprotein (LDL); apolipoprotein (apo) E-4;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
26
Recensione:
Indirizzi per estratti:
Indirizzo: Ando, H Kanazawa Univ, Sch Med, Dept Internal Med 1, 13-1 Takara Machi, Kanazawa, Ishikawa 9208641, Japan Kanazawa Univ 13-1 Takara Machi Kanazawa Ishikawa Japan 9208641 an
Citazione:
H. Ando et al., "Severe hypercholesterolemia in a double heterozygote for lipoprotein lipase deficiency (LPLArita) and apolipoprotein epsilon(4): A report of a familywith LPLArita", ENDOCR J, 48(1), 2001, pp. 113-118

Abstract

Although heterozygous lipoprotein lipase (LPL) deficiency is not rare, only part of the phenotypes may have been reported in japan. Here we describe a Japanese family with LPLArita, the most common mutation linked to familial LPL deficiency in Japan, and show for the first time a heterozygote for the mutation who had marked hypercholesterolemia due to increased low-density lipoprotein (LDL) cholesterol. The proband's mother, one of the heterozygotes for LPLArita in the family, had both severe hypercholesterolemia (total cholesterol 306 mg/dl) with an especially increase in LDL-cholesterol andmild hypertriglyceridemia (180 mg/dl). She had normal LDL receptor activity and did not show clear evidence of possible causes of secondary hyperlipidemia. In addition to being heterozygous for LPL deficiency, she was also heterozygous for apo epsilon (4). Because the epsilon (4) allele is known tobe associated with higher LDL-cholesterol, heterozygous apo epsilon (4) may be one of causes of her LDL-cholesterol elevation. The other three heterozygotes for LPLArita were moderate drinkers, and all of them had both remarkable hypertriglyceridemia and mild hypercholesterolemia due to increased very-low-density lipoproteins (VLDL). The results suggest that heterozygotesfor LPLArita can exhibit various phenotypes of hyperlipidemia, that is, hypertrigliceridemia and/or hypercholesterolemia due to not only increased VLDL but also increased LDL. The phenotypes appear to depend on some other genetic and environmental factors.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/07/20 alle ore 05:13:37