This report presents a case of a male infant, aged 32 days, who was admitted to the hospital due to 2 days of bloody stools and 1 day of fever. Upon admission, venous blood samples were collected, which appeared pink. Blood biochemistry tests revealed elevated levels of triglycerides and total cholesterol. The familial whole genome sequencing revealed a compound heterozygous variation in the LPL gene, with one variation inherited from the father and the other from the mother. The patient was diagnosed with lipoprotein lipase deficiency-related hyperlipoproteinemia. Acute symptoms including bloody stools, fever, and bloody ascites led to the consideration of acute pancreatitis, and the treatment involved fasting, plasma exchange, and whole blood exchange. Following the definitive diagnosis based on the genetic results, the patient was given a low-fat diet and received treatment with fat-soluble vitamins and trace elements, as well as adjustments to the feeding plan. After a 4-week hospitalization, the patient's condition improved and he was discharged. Follow-up showed a decrease in triglycerides and total cholesterol levels. At the age of 1 year, the patient's growth and psychomotor development were normal. This article emphasizes the multidisciplinary diagnosis and treatment of familial hyperlipoproteinemia presenting with symptoms suggestive of acute pancreatitis, including bloody ascites, in the neonatal period.
Humans ; Infant ; Male ; Acute Disease ; Ascites ; Cholesterol ; Hyperlipoproteinemia Type I/genetics* ; Hyperlipoproteinemias ; Lipoprotein Lipase/genetics* ; Pancreatitis ; Triglycerides

OBJECTIVETo investigate the anti-hyperlipidemic effects of apple polyphenols extract (APE) in Triton WR-1339-induced endogenous hyperlipidemic model.

METHODSFirstly, APE was isolated and purified from the pomace of Red Fuji Apple and contents of individual polyphenols in APE were determined using high-performance liquid chromatography-mass spectrometry (HPLC-MS). Secondly, forty male National Institude of Health (NIH) mice were randomly divided into 5 groups with 8 animals in each group. The Fenofibrate Capsules (FC) group and APE groups received oral administration of respective drugs for 7 consecutive days. All mice except those in the normal group were intravenously injected through tail vein with Triton WR-1339 on the 6th day. Serum and livers from all the mice were obtained 18 h after the injection. The changes in serum total cholesterol (TC), triglyceride (TG), lipoprotein lipase (LPL) and hepatic triglyceride lipase (HTGL) were measured by respective kits. Finally, expression of hepatic peroxisome proliferator-activated receptor alpha (PPARα) mRNA was measured by real-time reverse transcription-polymerase chain reaction (RT-PCR) method. RESULTS SERUM TC AND TG LEVELS SIGNIFICANTLY INCREASED IN TRITON WR-1339-INDUCED MODEL GROUP COMPARED WITH THE NORMAL GROUP (P<0.01). ORAL ADMINISTRATION OF APE [200 AND 400 MG/(KG DAY)] DOSE-DEPENDENTLY REDUCED THE SERUM LEVEL OF TG IN HYPERLIPIDEMIC MICE (P<0.01). SERUM LPL AND HTGL ACTIVITIES SIGNIFICANTLY DECREASED IN TRITON WR-1339-INDUCED MODEL GROUP COMPARED WITH THE NORMAL GROUP (P<0.05). ORAL ADMINISTRATION OF APE [200 AND 400 MG/(KG DAY)] DOSE-DEPENDENTLY ELEVATED THE SERUM ACTIVITY OF LPL IN HYPERLIPIDEMIC MICE (P<0.05 OR P<0.01). FURTHERMORE, COMPARED WITH THE NORMAL GROUP, HEPATIC MRNA LEVEL OF PPARα IN THE MODEL GROUP SIGNIFICANTLY DECREASED (P<0.01). ORAL ADMINISTRATION OF APE [200 AND 400 MG/(KG DAY)] DOSE-DEPENDENTLY ELEVATED THE EXPRESSION OF PPARα IN HYPERLIPIDEMIC MICE (P<0.05 OR P<0.01):

CONCLUSIONAPE could reduce TG level via up-regulation of LPL activity, which provides new evidence to elucidate the anti-hyperlipidemic effects of APE.

Animals ; Chlorogenic Acid ; pharmacology ; therapeutic use ; Cholesterol ; blood ; Flavonoids ; pharmacology ; therapeutic use ; Hyperlipidemias ; blood ; drug therapy ; enzymology ; pathology ; Hypolipidemic Agents ; pharmacology ; Lipoprotein Lipase ; blood ; genetics ; Male ; Mice ; PPAR alpha ; genetics ; metabolism ; Phytotherapy ; Polyethylene Glycols ; RNA, Messenger ; genetics ; metabolism ; Tannins ; pharmacology ; therapeutic use ; Triglycerides ; blood ; Up-Regulation ; drug effects

We report the case of a patient who experienced extreme recurrent gestational hyperlipidemia. She was diagnosed with partial lipoprotein lipase (LPL) deficiency but without an associated LPL gene mutation in the presence of the apolipoprotein E3/2 genotype. This is the first reported case of extreme gestational hyperlipidemia with a partial LPL deficiency in the absence of an LPL gene mutation and the apolipoprotein E 3/2 genotype. She was managed with strict dietary control and medicated with omega-3 acid ethyl esters. A patient with extreme hyperlipidemia that is limited to the gestational period should be considered partially LPL-deficient. Extreme instances of hyperlipidemia increase the risk of acute pancreatitis, and the effect of parturition on declining plasma lipid levels can be immediate and dramatic. Therefore, decisions regarding the timing and route of delivery with extreme gestational hyperlipidemia are critical and should be made carefully.
Acute Disease ; Adult ; Apolipoprotein E2/*genetics ; Apolipoprotein E3/*genetics ; Biological Markers/blood ; Combined Modality Therapy ; Diet, Fat-Restricted ; Fatty Acids, Omega-3/therapeutic use ; Female ; Fluid Therapy ; Genetic Predisposition to Disease ; Humans ; Hyperlipoproteinemia Type I/blood/diagnosis/enzymology/*genetics/therapy ; Lipids/blood ; Lipoprotein Lipase/genetics ; Pancreatitis/diagnosis/*etiology/therapy ; Parenteral Nutrition, Total ; Phenotype ; Pregnancy ; Pregnancy Complications/blood/diagnosis/enzymology/*genetics/therapy ; Recurrence ; Tomography, X-Ray Computed ; Treatment Outcome

OBJECTIVETo inquire into the relationship between lipoprotein lipase (LPL) gene D9N, N291S and S447X polymorphisms and the development of cardiovascular diseases in children with obesity.

METHODSThe polymerase chain reaction (PCR) and restriction fragment length polymorphism (RLFP) techniques were used to detect three common mutations of LPL gene exon D9N, N291S and S447X in 157 obese children and 175 normal controls. Plasma lipid and lipoprotein levels between children with different genotypes were compared.

RESULTSThe D9N and N291S gene mutations were not detected in either the obese or the control groups. There were no significant differences in the frequency of S447X gene mutation between the two groups. There were no significant differences in the levels of plasma lipid and lipoprotein between children with S447 and X447 genotypes.

CONCLUSIONSD9N and N291S gene mutations may not be risk factors associated with cardiovascular diseases in children with obesity. S447X gene mutation might not play an important role in the development of cardiovascular diseases in childhood.

Adolescent ; Cardiovascular Diseases ; etiology ; genetics ; Child ; Female ; Humans ; Lipoprotein Lipase ; genetics ; Male ; Mutation ; Obesity ; genetics ; Risk Factors

OBJECTIVETo investigate the relationship of gallstone formation after radical gastrectomy with the polymorphisms of apolipoprotein B (ApoB) Xba I gene and lipoprotein lipase (LPL) Hind III gene.

METHODSA total of 80 gastric cancer patients who underwent radical gastrectomy at our hospital between January 2006 and December 2006 were divided into different groups according to the polymorphisms of ApoB Xba I gene and LPL Hind III gene. The gene polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism. Gallstone formation 2 years after radical gastrectomy was compared among different genotype groups.

RESULTSEight patients were lost to follow-up. According to the genotype detection, 72 patients were divided into X(+)X(-) group (10 cases), X(-)X(-) group (62 cases), H(-) group (27 cases) and H(-) deletion group (45 cases). The incidence of gallstone was significantly higher in X(+)X(-) group than that in X(-)X(-) group (60.0% vs 6.5%, P<0.01). The serum levels of total cholesterol TC and low density lipoprotein were significantly higher in X(+)X(-) group than those in X(-)X(-) group (P<0.05), but the level of ApoB was not significantly different between the two groups. The incidence of gallstone was not significantly different between H(-) group and H(-) deletion group (14.8% vs 13.3%). The level of triglyceride in H(-) group was significantly lower than that in H(-) deletion group before operation, however the difference disappeared after operation.

CONCLUSIONX(+) allele may be associated with gallstone formation after radical gastrectomy, while H(-) may not.

Adult ; Aged ; Aged, 80 and over ; Alleles ; Apolipoproteins B ; genetics ; Cholecystolithiasis ; pathology ; Female ; Gastrectomy ; adverse effects ; Genotype ; Humans ; Lipoprotein Lipase ; genetics ; Male ; Middle Aged ; Neoplasm Staging ; Polymorphism, Single Nucleotide ; Postoperative Complications ; pathology ; Prospective Studies ; Stomach Neoplasms ; surgery

11-beta-Hydroxysteroid Dehydrogenase Type 1 ; genetics ; metabolism ; Adipose Tissue, White ; drug effects ; Animals ; Animals, Newborn ; Blood Glucose ; metabolism ; Body Weight ; drug effects ; Drug Synergism ; Eating ; drug effects ; Fenofibrate ; pharmacology ; Hypoglycemic Agents ; pharmacology ; Hypolipidemic Agents ; pharmacology ; Insulin Resistance ; Lipids ; blood ; Lipoprotein Lipase ; genetics ; metabolism ; Liver ; drug effects ; Metabolic Syndrome ; chemically induced ; metabolism ; pathology ; Mice ; Mice, Inbred ICR ; RNA, Messenger ; metabolism ; Sodium Glutamate ; Thiazolidinediones ; pharmacology

Parathyroid hormone-related protein (PTHrP) is synthesized by diverse tissues, and its processing produces several fragments, each with apparently distinct autocrine and paracrine bioactivities. In bone, PTHrP appears to modulate bone formation in part through promoting osteoblast differentiation. The putative effect of PTH-like and PTH-unrelated fragments of PTHrP on human mesenchymal stem cell (MSCs) is not well known. Human MSCs were treated with PTHrP (1-36) or PTHrP (107-139) or both (each at 10 nM) in osteogenic or adipogenic medium, from the start or after 6 days of exposure to the corresponding medium, and the expression of several osteoblastogenic and adipogenic markers was analyzed. PTHrP (1-36) inhibited adipogenesis in MSCs and favoured the expression of osteogenic early markers. The opposite was observed with treatment of MSCs with PTHrP (107-139). Moreover, inhibition of the adipogenic differentiation by PTHrP (1-36) prevailed in the presence of PTHrP (107-139). The PTH/PTHrP type 1 receptor (PTH1R) gene expression was maximum in the earlier and later stages of osteogenesis and adipogenesis, respectively. While PTHrP (107-139) did not modify the PTH1R overexpression during adipogenesis, PTHrP (1-36) did inhibit it; an effect which was partially affected by PTHrP (7-34), a PTH1R antagonist, at 1 microM. These findings demonstrate that both PTHrP domains can exert varying effects on human MSCs differentiation. PTHrP (107-139) showed a tendency to favor adipogenesis, while PTHrP (1-36) induced a mild osteogenic effect in these cells, and inhibited their adipocytic commitment. This further supports the potential anabolic action of the latter peptide in humans.
Adipogenesis/drug effects ; Alkaline Phosphatase/biosynthesis/genetics ; Antigens, Differentiation/biosynthesis/genetics ; Bone Marrow/pathology ; Cell Differentiation/drug effects ; Cells, Cultured ; Core Binding Factor Alpha 1 Subunit/biosynthesis/genetics ; Culture Media ; Gene Expression Regulation ; Humans ; Lipoprotein Lipase/biosynthesis/genetics ; Mesenchymal Stem Cells/*drug effects/metabolism/pathology ; Osteoblasts/drug effects/*metabolism/pathology ; Osteogenesis/drug effects ; PPAR gamma/biosynthesis/genetics ; Parathyroid Hormone/*pharmacology ; Peptide Fragments/*pharmacology ; Receptor, Parathyroid Hormone, Type 1/antagonists & inhibitors

OBJECTIVETo investigate lipoprotein lipase (LPL) and serum thymidine kinase (TK) levels in chronic lymphocytic leukemia (CLL) and their correlations with other prognostic factors.

METHODSLPL expression level in peripheral blood samples of 58 CLL patients was detected by semi-quantitative reverse transcription PCR (RT-PCR). Serum TK1 level in 39 CLL patients was detected by enhanced chemiluminescence (ECL) and TK monoclonal antibody (Anti-TK mAb). IgVH mutation status was detected by multiplex PCR and sequencing of purified PCR products. The expression of ZAP-70 protein and CD38 were determined by flow cytometry . Panel probes and fluorescence in situ hybridization (FISH) were used to detect cytogenetic aberrations.

RESULTSThe median LPL expression level in CLL was 0.26 (0 -6.29), while undetectable in normal controls. LPL expression level was significantly correlated with IgVH mutation status, Binet stages, CD38 and cytogenetic aberrations. Patients with unmutated IgVH genes had higher LPL than those with IgVH mutations (P = 0.010). Patients in Binet stage B and C had higher LPL than those in stage A (P = 0.011). LPL level was higher in patients with CD38 > or = 30% (P = 0.001). Higher LPL level was found in patients with unfavorable cytogenetic aberrations (deletion in 17p13 or 11q22) than those with favorable cytogenetics (deletion in 13q as the sole abnormality) (P = 0.002). LPL level was not significantly correlated with sex, age, and ZAP-70 protein (P > 0.05). The level of TK1 was higher in CLL patients than that in normal control (P < 0.05). Patients with higher level of absolute lymphocyte count (ALC), lactate dehydrogenase (LDH), unmutated IgVH genes and ZAP-70 had higher levels of TK1 than those with lower level of ALC, LDH, mutated IgVH genes and ZAP-70 (P = 0.018, P = 0.018, P = 0.030 and P = 0.038, respectively). TK1 level had no correlation with sex, age, Binet stages, CD38, and cytogenetic aberrations (P > 0.05).

CONCLUSIONSLPL expression and serum TK1 levels significantly correlate with other CLL prognostic factors and could be predictive markers for IgVH mutation status. LPL and serum TK1 might be applied to the assessment of prognosis in CLL patients.

ADP-ribosyl Cyclase 1 ; metabolism ; Adult ; Aged ; Aged, 80 and over ; Female ; Humans ; Immunoglobulin Heavy Chains ; genetics ; Leukemia, Lymphocytic, Chronic, B-Cell ; enzymology ; metabolism ; Lipoprotein Lipase ; blood ; Male ; Middle Aged ; Mutation ; Thymidine Kinase ; blood ; ZAP-70 Protein-Tyrosine Kinase ; metabolism

The etiology and pathogenesis of type 2 diabetes mellitus (T2DM) are not completely understood although it is often associated with other conditions such as obesity, hypertension, and dyslipidemia. Lipoprotein lipase (LPL) is a key enzyme in human lipid metabolism that facilitates the removal of triglyceride-rich lipoproteins from the bloodstream. LPL hydrolyzes the core of triglyceride-rich lipoproteins (chylomicrons and very low density lipoprotein) into free fatty acids and monoacylglycerol. To gain insight into the possible role of LPL in T2DM, nine single nucleotide polymorphisms (SNPs) of LPL were analyzed for the association with T2DM using 944 unrelated Koreans, including 474 T2DM subjects and 470 normal healthy controls. Of the nine LPL SNPs we analyzed, a significant association with multiple tests by the false discovery rate (FDR) was observed between T2DM and SNP rs343 (+13836C>A in intron 3). SNP rs343 was also marginally associated with some of T2DM-related phenotypes including total cholesterol, high density lipoprotein cholesterol (HDLc), and log transformed glycosylated hemoglobin in 470 normal controls, although no significant association was detected by multiple tests. In total, our results suggest that the control of lipid level by LPL in the bloodstream might be an important factor in T2DM pathogenesis in the Korean population.
Aged ; Asian Continental Ancestry Group ; Cohort Studies ; Databases, Genetic ; Diabetes Mellitus, Type 2/*genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Lipoprotein Lipase/*genetics ; Male ; Middle Aged ; *Polymorphism, Single Nucleotide

OBJECTIVETo investigate the association between haplotypes of S447X and Hind III polymorphisms of lipoprotein lipase (LPL) gene and serum lipids in a population-based twin cohort study in China.

METHODSTwin subjects were collected based on the twin registry system of China. All twins were investigated by a standard questionnaire and physical examinations. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect the genotypes of S447X and Hind III polymorphisms. Linkage disequilibrium test and haplotypes were estimated between two polymorphisms.

RESULTSNine hundred and eighty-seven pairs of twins were eligible for analysis. The two polymorphisms of LPL gene were significantly linkage disequilibrium. In female twins, the H- allele of Hind III polymorphism was significantly related to lower levels of triglycerides(TG) and lower risk of high TG dislipidemia, but those associations disappeared after adjusting the polymorphism of S447X. The H- X haplotype of those two polymorphisms was significantly related to lower TG and TG/HDL (decreasing 12.9% and 14.9% respectively), as well as significantly to lower risk of high TG dislipidemia (OR = 0.40).

CONCLUSIONThe haplotypes of S447X and Hind III polymorphisms were significantly related to the favorable effect of lipids,but this effect was mostly determined by the polymorphism of S447X, while the effect of Hind III polymorphism was indirectly influenced by the linkage disequilibrium with S447X polymorphism.

Adult ; Female ; Haplotypes ; genetics ; Humans ; Linkage Disequilibrium ; genetics ; Lipids ; blood ; Lipoprotein Lipase ; genetics ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics ; Polymorphism, Restriction Fragment Length ; genetics ; Twins ; blood ; genetics