BackgroundAbetalipoproteinemia (ABL; OMIM 200100) is a rare monogenic disorder of lipid metabolism characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and almost complete absence of apolipoprotein B (apoB). ABL results from genetic deficiency in microsomal triglyceride transfer protein (MTP; OMIM 157147). In the present study we investigated two unrelated Tunisian patients, born from consanguineous marriages, with severe deficiency of plasma low-density lipoprotein (LDL) and apo B.MethodsIntestinal biopsies were performed and The MTTP gene was amplified by Polymerase chain reaction then directly sequenced in patients presenting chronic diarrhea and retarded growth.ResultsFirst proband was homozygous for a novel nucleotide deletion (c. 2611delC) involving the exon 18 of MTTP gene predicted to cause a non functional protein of 898 amino acids (p.H871I fsX29). Second proband was homozygous for a nonsense mutation in exon 8 (c.923 G > A) predicted to cause a truncated protein of 307 amino acids (p.W308X), previously reported in ABL patients.ConclusionsWe discovered a novel mutation in MTTP gene and we confirmed the diagnosis of abetalipoproteinemia in new Tunisian families.Virtual slidesThe virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/8134027928652779.
The Ala 12 Ala genotype of the PPARγ2 gene may decrease the number of diseased vessels and the severity of CAD, which could be because of a direct antiatherogenic effect of this polymorphism as well as an indirect effect through its association with a lower level of inflammatory parameters and insulin resistance.
We investigated the synergism between variants at the PPARγ locus (C161T and Pro12Ala polymorphisms) with insulin resistance on metabolic syndrome (MS). Five hundred twenty-two subjects were investigated for biochemical and anthropometric measurements. The diagnosis of MS was based on the IDF definition (2009). The HOMA 2 was used to determine HOMA-β, HOMA-S, and HOMA-IR from FPG and FPI concentrations. PCR-RFLP was performed for DNA genotyping. We showed that carriers of the Pro/Pro had a significantly higher FPG, FPI, and HOMA-IR. In addition, Pro/Pro subjects also display reduced HOMA-β and HOMA-S together compared to X/Ala (Pro/Ala and Ala/Ala) subjects. Furthermore, subjects with C/C have a significantly lower FPG, FPI, and HOMA-IR and higher HOMA-S compared to X/T (C/T and T/T) subjects. The C/C genotype carriers with an Ala allele group had significantly reduced FPG, FPI, HOMA-IR, and TG and elevated HOMA-S and HOMA-β than the different genotype combinations. We suggest that the haplotype composed of the C/C genotype carriers with an Ala allele of PPARγ2 group enhances susceptibility to the MS in a central Tunisian population.
Leu162Val PPARα and Pro12Ala PPARγ2 were investigated for their individual and their interactive impact on MS and renal functionality (RF). 522 subjects were investigated for biochemical and anthropometric measurements. The diagnosis of MS was based on the IDF definition (2009). The HOMA 2 was used to determine HOMA-β, HOMA-S and HOMA-IR from FPG and FPI concentrations. RF was assessed by estimating the GFR. PCR-RFLP was performed for DNA genotyping. Allele frequencies were 0.845 for Pro and 0.155 for Ala, and were 0.915 for Leu and 0.085 for Val. We showed that carriers of the PPARα Val 162 allele had lower urea, UA and higher GFR compared to those homozygous for the Leu162 allele. Subjects carried by PPARγ2Ala allele had similar results. They also had reduced FPG, FPI and HOMA-IR, and elevated HOMA-β and HOMA-S compared to those homozygous for the Pro allele. Subjects were divided into 4 groups according to the combinations of genetic alleles of the 2 polymorphisms. Subjects carrying the Leu/Val with an Ala allele had lower FPG, PPI, HOMA-IR, urea, UA levels, higher HOMA-β, HOMA-S and GFR than different genotype combinations. Leu162Val PPARα and Pro12Ala PPARγ2 can interact with each other to modulate glucose and insulin homeostasis and expand their association with overall better RF.
Aims: We have investigated to what extent Metabolic Syndrome (MS) is related to Coronary Artery Disease (CAD) incidence and we tried to determine a metric parameter combining MS quantitative components to be used as a screening tool to diagnose CAD. Materials and methods: 239 patients and 244 control subjects were investigated for clinical, biochemical, anthropometric and angiographic information. CAD is defined as 50% stenosis on the left main coronary artery or multiple significant (≥ 70% stenosis) in more than one coronary artery. The diagnosis of MS was based on the IDF and AHA/NHLBI definition. The computer model HOMA 2 was used to determine HOMA-β, HOMA-S and HOMA-IR. Triglycerides (TG), High Density Lipoprotein cholesterol (cHDL), Systolic Blood Pressure (SBP) and Diastolic Blood Pressure (DBP), HOMA-IR and Waist Circumference (WC) were used to calculate the different MS markers. The area under curve of ROC curves were used to compare the powers of these MS markers. Results: MS was significantly related to the CAD. Each MS quantitative component was a significant discriminating factor for CAD. FPG followed by SBP were the principal predictive factors of CAD. A metric parameter combing MS qualitative components [(TG/cHDL) × (HOMA-IR × WC)] + SBP was more accurate to estimate CAD risk. Its cutoff point was 247.1 Conclusion: MS was associated with CAD. This marker, with sensitivity and specificity of 86.2 and 73.0 per cent can be used either to diagnose or to predict CAD incidence.
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