Familial hypobetalipoproteinemia: Analysis by next generation sequencing and identification of a novel frameshift mutation in the apoB gene

Lipid and Apoprotein Profile in Renal Transplant Recipients

Lipid and apoprotein profiles of renal transplant recipients were compared with that of a group of uremic patients on hemodialytic treatment. Total cholesterol, HDL-cholesterol, apo AI and apo B were higher and triglycerides, apo CII, apo CIII and apo E lower in renal transplant patients. Type IIa and IIb were the prevalent phenotypes in renal transplant recipients.

Mutation in candidate genes account for a small minority of hypobetalipoproteinemias and NGS analysis support polygenicity in mutation-negative patients

Genotypic and phenotypic characterization of patients with autosomal dominant hypercholesterolemia identified in the lipigen centre of Palermo

Clinical and genetic features of 2 patients with severe hypertriglyceridemia due to a mutation in GPIHBP1 gene

Lp(a) levels in patients undergoing aorto-coronary bypass surgery.

The aims of this study were to evaluate plasma lipid, apoprotein and Lp(a) levels in patients with severe coronary atherosclerosis undergoing aorto-coronary bypass surgery (BP) and to relate these parameters to the involvement of one or more vessels. Seventy-seven male patients and 77 cardiovascular disease-free controls, matched for sex, age and body weight were studied. Higher triglyceride and apo B levels with lower HDL-cholesterol and apo A-I levels were found in BP patients in comparison with the controls. Lp(a) levels were slightly, but not significantly, increased. Moreover BP patients presented a significantly higher prevalence of HDL-cholesterol levels below 35 mg dl-1 (49.3% vs 22…

Identification Of P.Leu167Del Apoe Gene Mutation By Next Generation Sequencing In A Large Hypercholesterolemic Family

Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene

Abstract We describe a Sicilian family presenting a recessive form of hypercholesterolemia harboring a mutation of the autosomal recessive hypercholesterolemia (ARH) gene. In two of the three sibs, a 26-year-old male and a 22-year-old female, a severe hypercholesterolemia was diagnosed with very high levels of plasma cholesterol (15.9 and 12.2 mmol/l, respectively); tendon xanthomatas and xanthelasms were present and in the male proband was documented a diffuse coronary atherosclerotic disease with a rapid and fatal progression. Both the parents had normal or slightly increased levels of plasma cholesterol. All causes of secondary hypercholesterolemia were ruled out as well as an involvemen…

Diet and Gallstones in Women of a Rural Town of Sicily

To test the possible association between dietary factors and gallstones, we performed a case-control study on the dietary habits of 71 women with gallstones in a rural area of Sicily (mean age 63.2 years) and compared these with 142 women who did not have gallstones (mean age 63.6 years) selected at random from the same general population. The dietary questionnaire, based on data collected over 7 days, was carefully compiled by two dieticians specially trained for the study. The daily calorie intake was higher in the women with gallstones ( p= 0.006) and was equally distributed between fats, carbohydrates and proteins. The intakes of unsaturated fats ( p= 0.03), unrefined sugars ( p= 0.01) …

MOLECULAR CHARACTERIZATION OF PATIENTS WITH AND WITHOUT CORONARY ARTERY DISEASE WITH "EXTREME LDL-C PHENOTYPES"

Prevalence of high molecular weight apoprotein(a) isoforms in subjects with very low plasma levels of Lipoprotein(a)

Lipids, Lipoproteins and Apolipoproteins A<sub>I</sub> A<sub>II</sub>, B, C<sub>II</sub>, C<sub>III</sub> and E in Newborns

In this study lipid and apolipoprotein patterns were investigated at birth and compared with those of adults. In cord sera, cholesterol, triglycerides, low-density lipoprotein (LDL) cholesterol and high-density lipoprotein (HDL) cholesterol were 38.2, 46.2, 50.5, and 31.9%, respectively, of adult values. Apolipoprotein A<sub>II</sub>, B and C<sub>III</sub> were 48.6, 30.6 and 44.5% of adult values, while apo A<sub>I</sub>, apo C<sub>II</sub> and apo E showed values approaching those of adults (63.4, 73.3 and 89.7%, respectively). Also cholesterol/HDL cholesterol and LDL cholesterol/HDL cholesterol ratios were lower in newborns. In cord sera, l…

Mitochondrial DNA variations in patients with Type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population

The LDL-receptor gene point mutation FH-Genoa/Palermo is the most frequent mutation responsible for Familial Hypercholesterolemia in Sicily. The mutation does not introduce or abolish any useful restriction site. We establish a GeneComb-based strategy to identify this mutation in a population of Sicilian unrelated clinically diagnosed FH probands. The method was very sensitive and specific; 12 out of 90 (13.3%) unrelated FH probands were found to carry the FH-Genoa/Palermo mutation. According to these results, the FH-Genoa/Palermo is the more frequent LDL-receptor gene mutation among the Sicilian FH patients. Moreover FH-Genoa/Palermo is the mutation cluster to date more represented in Sout…

Prevalence Of Statin Intolerance In A Cohort Of Outpatients In A Lipid Clinic

Liver is not the unique site of synthesis of beta 2-glycoprotein I (apolipoprotein H): evidence for an intestinal localization.

Apolipoprotein H is a protein of about 50 kilodaltons, structurally related to the regulators of the complement activation family. Its physiological function is poorly understood but it has been implicated in lipid metabolism and coagulative pathways. The major site of synthesis is thought to be the liver. Several reports indicate that apolipoprotein H is the antigen of the antiphospholipid antibodies and also behaves as an acute-phase reactant. Moreover, 40% of plasma apolipoprotein H is associated with very low-density lipoprotein, high-density lipoprotein, and postprandial chylomicrons. In this study we investigated other sites of synthesis by reverse transcription/polymerase chain react…

Transient Neonatal Hypercholesterolemia

In order to obtain new information about the relationship between transient neonatal hypercholesterolemia and adrenal gland function, we have studied 39 healthy babies found hypercholesterolemic at birth and 39 healthy controls with normal cholesterol levels. The results of this study have shown that levels of dehydroepiandrosterone sulfate in cord blood were not significantly different in the hypercholesterolemic subjects compared with normolipidemic controls (1.4 +/- 0.5 micrograms/dl vs 1.3 +/- 0.5 mu/dl). Moreover correlations between this hormone and levels of total and LDL-cholesterol were not only not statistically significant but even positive (respectively r = +0.207 and +0.195). T…