A family-based study of hyperinsulinemia and hypertriglyceridemia in heterozygous lipoprotein lipase deficiency

Clinica Chimica Acta

Volumn 316, Issue 1-2, 2002, Pages 179-185

  Ikeda, Yasuyuki ^a   Takagi, Atsuko ^a   Nakata, Yuusei ^b   Sera, Yasuhiko ^b   Hyoudou, Sumio ^b   Hamamoto, Kazuko ^b   Nishi, Yoshikazu ^b   Yamamoto, Akira ^c  

^a NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

^b ATOMIC BOMB SURVIVORS HOSPITAL   (Japan)

^c HYOGO COLLEGE OF MEDICINE   (Japan)

Author keywords

Hyperinsulinemia; Hypertriglyceridemia; Insulin resistance; LPL gene; Type I hyperlipoproteinemia; Type IV hyperlipoproteinemia

Indexed keywords

LIPOPROTEIN LIPASE;

ALLELE; ARTICLE; CASE REPORT; CONTROLLED STUDY; DISEASE MARKER; DISEASE PREDISPOSITION; ENZYME ACTIVITY; EXON; FAMILY STUDY; HETEROZYGOTE; HUMAN; HYPERINSULINEMIA; HYPERLIPOPROTEINEMIA TYPE 1; HYPERTRIGLYCERIDEMIA; INFANT; INSULIN RESISTANCE; INTRON; MALE; MISSENSE MUTATION; MOTHER; PRIORITY JOURNAL;

ADULT; AGED; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; GENETIC MARKERS; HETEROZYGOTE; HUMANS; HYPERINSULINISM; HYPERLIPOPROTEINEMIA TYPE I; HYPERTRIGLYCERIDEMIA; INFANT; INSULIN RESISTANCE; JAPAN; LIPOPROTEIN LIPASE; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PEDIGREE; RNA SPLICE SITES;

EID: 0036135317     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(01)00746-X     Document Type: Article

References (24)

1. Purification and characterization of lipoprotein lipase and hepatic triglyceride lipase from human postheparin plasma: Production of monospecific antibody to the individual lipase
2. Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome
3. Lipoprotein lipase and hepatic lipase
4. A sandwich-enzyme immunoassay for the quantification of lipoprotein lipase and hepatic triglyceride lipase in human postheparin plasma using monoclonal antibodies to the corresponding enzymes
5. Structure of the human lipoprotein lipase gene
6. 188) of human lipoprotein lipase imparting functional deficiency
7. Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation
8. 916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript
9. Elucidation of an underlying etiology of primary type IV hyperlipoproteinemia: Heterozygous lipoprotein lipase deficiency as a causal genetic disorder
10. 291 Ser mutation in the lipoprotein lipase gene in two Finnish pedigrees: Effect of hyperinsulinemia on the expression of hypertriglyceridemia
11. Hyperinsulinemia and abdominal obesity affect the expression of hypertriglyceridemia in heterozygous familial lipoprotein lipase deficiency
12. A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency
13. 972 TGA; LPLobama) in a patient with primary type IV hyperlipoproteinemia
14. Heterozygous lipoprotein lipase deficiency: Frequency in the general population, effect on plasma lipid levels, and risk of ischemic heart disease
15. Alterations in plasma lipoproteins and apolipoproteins before the age of 40 in heterozygotes for lipoprotein lipase deficiency
16. Novel compound heterozygous mutations for lipoprotein lipase deficiency: A G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5′ splice site mutation of intron 8
17. Practical methods for plasma lipoprotein analysis
18. A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia
19. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI
20. Role of insulin resistance in human disease
21. Fatty acids, hyperinsulinemia, and insulin resistance: Which comes first?
22. Insulin, health behaviors, and lipid metabolism
23. In vivo regulation of lipolysis in humans
24. Insulin resistance and lipid metabolism