Publications by authors named "Imen Jguirim"
Autosomal dominant hypercholesterolemia (ADH) is characterized by an isolated elevation of plasmatic low-density lipoprotein (LDL), which predisposes to premature coronary artery disease (CAD) and early death. ADH is largely due to mutations in the low-density lipoprotein receptor gene (LDLR), the apolipoprotein B-100 gene (APOB), or the proprotein convertase subtilisin/kexin type 9 (PCSK9). Early diagnosis and initiation of treatment can modify the disease progression and its outcomes.
View Article and Find Full Text PDFAutosomal Dominant Hypercholesterolemia (ADH) is due to defects in the LDL receptor gene (LDLR), the apolipoprotein B-100 gene (APOB) or the proprotein convertase subtilisin/kexin type 9 gene (PCSK9). The aim of this study was to identify and to characterize the ADH-causative mutations in two Tunisian families. Analysis of the LDLR gene was performed by direct sequencing, multiplex ligation-dependent probe amplification (MLPA) and by long range PCR and sequencing.
View Article and Find Full Text PDFArticle Synopsis
- Autosomal dominant hypercholesterolemia (ADH) is linked to mutations in genes like LDLR, APOB, and PCSK9, which influence LDL-cholesterol levels.
- Research on thirteen Tunisian ADH families identified a new mutation in the LDLR gene, with varying LDL-cholesterol levels despite the presence of these mutations, suggesting other factors at play.
- The study highlights that while genetic variations in PCSK9 and APOE partially account for the variability in cholesterol levels, additional genetic and environmental factors are likely involved.
Background: Autosomal Dominant Hypercholesterolemia (ADH) is an autosomal dominant disease caused by mutations in the low density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. Xanthomas and coronary heart diseases (CHD) at an early age are the major clinical manifestations of the disease.
Methods: 16 families with familial hypercholesterolemia from different regions in Tunisia participated in the study.
Aims: We investigated the effect of plasma levels of human tissue inhibitor of metalloproteinase (hTIMP)-1 on arterial lesion development and aneurysm formation in apolipoprotein-E-deficient mice (ApoE(-/-)).
Methods: Control and transgenic mice were fed either a chow diet or a high-fat diet for 90 and 180 days.
Results: hTIMP-1 has a tendency to decrease atherosclerotic lesions, but did not attain significance (approximately 6% reduction in hTIMP-1(+/+), p = 0.