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BACKGROUND Elevated blood homocysteine is a risk factor for cardiovascular disease. A 5-micromol/L increase is associated with an approximately 70% increase in relative risk of cardiovascular disease in adults. For patients with established risk factors, this risk is likely even greater. OBJECTIVE Effects of increased dietary folate and recommended(More)
Familial combined hyperlipidemia (FCHL) is an oligogenic disorder, with family members having elevated apolipoprotein B-100 levels and either elevated plasma cholesterol or triglyceride levels or both. Obligate heterozygous parents of children with lipoprotein lipase (LPL) deficiency express a mild FCHL phenotype. Of patients with FCHL, 36% have diminished(More)
We previously reported a compound heterozygote [T(-39)C/T(-93)G] in the human lipoprotein lipase (LPL) gene promoter in one out of 19 patients with familial combined hyperlipidemia (FCHL) and reduced post-heparin plasma LPL levels. The T(-39)C substitution resulted in 85% decrease in LPL promoter activity. Further screening of Caucasian patients with FCHL,(More)
We have identified a naturally occurring mutation in the promoter of the lipoprotein lipase (LPL) gene. One of 20 patients with familial combined hyperlipidemia (FCHL) and reduced levels of postheparin plasma LPL activity was found to be a heterozygote carrier of this mutation. The mutation, a T-->C substitution at nt -39, occurred in the binding site of(More)
Paraxonase, an enzyme associated with the high density lipoprotein (HDL) particle, hydrolyzes paraoxon, the active metabolite of the insecticide parathion. Several studies have shown that paraxonase levels in humans have a distribution characteristic of two alleles, one with low activity and the other with high activity. Paraoxonase also has arylesterase(More)
How weight loss improves lipid levels is poorly understood. Cross-sectional studies have suggested that accumulation of fat in intra-abdominal stores (IAF) may lead to abnormal lipid levels, increased hepatic lipase (HL) activity, and smaller low density lipoprotein (LDL) particle size. To determine what effect loss of IAF would have on lipid parameters, 21(More)
We have identified the underlying molecular defect in a patient with hepatic lipase (HL) deficiency presenting with hypertriglyceridemia and premature cardiovascular disease. DNA sequencing of polymerase chain reaction (PCR) amplified DNA and digestion with BsrI established homozygosity for an A-->G mutation in intron I of the patient's hepatic lipase gene.(More)
It has been suggested that apo A-IV may play a role in modulating the activation of lipoprotein lipase (LPL) by apo C-II (Goldberg et al., 1990). Therefore, the role of genetic variation at the apolipoprotein A-IV locus in familial combined hyperlipidemia (FCHL) was investigated. A subset of FCHL patients with half the level of plasma LPL activity was(More)
Previous studies from this laboratory characterized the hypercholesterolemia of pigs with a mutant allele of apolipoprotein B (apoB), designated Lpb5. This apoB allele is associated with low density lipoprotein (LDL) particles deficient in binding to the LDL receptor. To identify potential causative mutations in Lpb5 DNA, 10.6 kb of genomic DNA, encoding(More)
Sequence differences within the pig apoB gene can be used to identify rapidly four of eight known pig apoB alleles, designated LPB1-LBP8. We describe the use of gene amplification, followed by endonuclease digestion and agarose gel electrophoresis, to discern size and restriction site differences. LPB5, a common allele associated with reduced low density(More)