Appetite control and gastrointestinal hormonal behavior (CCK, GLP-1, PYY 1-36) following low doses of a whey protein-rich nutraceutic.

Whey proteins represent the most satiating nutrients. In particular, their effects are due to enterohormonal changes (CCK, GLP-1 and PYY 1-36) observed after their exclusive ingestion. Glucomannan has important satiety property due to volume increase following gelification. The aim of the study is the evaluation of subjective rate of hunger and enterohormone concentrations (CCK, GLP-1, PYY 1-36) following oral loading of a mixture containing WP (8 g) or casein (8 g) plus glucomannan (1 g) (Colordiet®, Inpha DUEMILA Srl Lecco, Italy). The study was conducted as a double-blind crossover with five healthy volunteers (BMI 22-26 kg/m2 aging 18-65 years) in acute and a wash-out period of 1 week between the first and the second evaluation. From the analysis of the data, we observe that the load with WP induces a significant decrease in the desire to eat after 90 min (P < 0.0446) when compared with casein. As far as plasma hormones are concerned, there was a significant increase only in GLP-1 at 90 min after WP (P < 0.00166) and 180 min after casein (T0 vs. T180 P = 0.000129). There is a significant correlation between the increase in GLP-1 and decrease of desire to eat (R = -0.93). There is a tendency to the increasing of CCK after 90 min, which is not significant (P = 0.091). These results could be due to (a) the low number of cases or (b) the low dose of protein used. The present study suggests that a mixture of WP plus glucomannan exerts a decrease in the desire to eat which is correlated to enterohormonal modification (GLP-1 increase) despite the low content of protein (8 g) and the presence of glucomannan, which could reduce the fast absorption of WP in relation to the net forming during the gelification of the gastric environment.

Pseudoxanthoma elasticum and familial hypercholesterolemia: a deleterious combination of cardiovascular risk factors.

BACKGROUND AND OBJECTIVE: Pseudoxanthoma Elasticum (PXE), an autosomal recessive disease due to mutations in ABCC6 gene, is characterised by fragmentation of elastic fibres with involvement of the cardiovascular system. We investigated a 60-year-old female with angina pectoris found to have PXE, associated with elevated plasma LDL-C suspected to be due to autosomal-co-dominant hypercholesterolemia. METHODS: ABCC6, LDLR, PCSK9 and exon 26 of APOB genes were re-sequenced. Cardiovascular involvement was assessed by coronary angiography, single-photon emission computed tomography (SPECT) and ultrasound examination. RESULTS AND CONCLUSIONS: The patient was a compound heterozygous for two ABCC6 mutations (p.S317R and p.R1141X) and heterozygous for a novel LDLR mutation (p.R574H). She had severe coronary stenosis and calcification of the arteries of the lower limbs. Treatment with ezetimibe/simvastatin 10/60mg/day, maintained over a 4.5-year period, reduced of LDL-C and the myocardial ischemic area. In PXE patients LDL-lowering treatment might contribute to delay macrovascular complications.

A novel mutation of the apolipoprotein A-I gene in a family with familial combined hyperlipidemia.

We report a large family in which four members showed a plasma lipid profile consistent with the clinical diagnosis of familial combined hyperlipidemia (FCHL). One of these patients was found to have markedly reduced HDL cholesterol (HDL-C) (0.72 mmol/l) and Apo A-I (72 mg/dl) levels, a condition suggestive of the presence of a mutation in one of the HDL-related genes. The analysis of APOA1 gene revealed that this patient was heterozygous for a cytosine insertion in exon 3 (c.49-50 ins C), resulting in a frame-shift and premature stop codon at position 26 of pro-Apo A-I (Q17PFsX10). This novel mutation, which prevents the synthesis of Apo A-I, was also found in four family members, including three siblings and the daughter of the proband. Carriers of Apo A-I mutation had significantly lower HDL-C and Apo A-I than non-carriers family members (0.77+/-0.15 mmol/l vs. 1.15+/-0.20 mmol/l, P<0.005; 71.4+/-9.1mg/dl vs. 134.0+/-14.7 mg/dl, P<0.005, respectively). Two of the APOA1 mutation carriers, who were also heavy smokers, had fibrous plaques in the carotid arteries causing mild stenosis (20%). The intimal-media thickness in the two other adult carriers was within the normal range. The other non-carriers family members with FCHL had either overt vascular disease or carotid atherosclerosis at ultrasound examination. This observation suggests that the low HDL-C/low Apo A-I phenotype may result from a genetic defect directly affecting HDL metabolism, even in the context of a dyslipidemia which, like FCHL, is associated with low plasma HDL-C.