Publications by authors named "Suwanna Muanpetch"
Article Synopsis
- A workplace screening identified potential cases of familial hypercholesterolemia (FH) in a notable percentage of participants, indicating a need for early diagnosis to prevent cardiovascular disease.
- The study compared clinical characteristics between those diagnosed with potential FH and those unlikely to have the condition, revealing higher rates of premature cardiovascular issues and other health risks in the potential FH group.
- Despite some individuals in the potential FH group using lipid-lowering medications, achieving LDL-C goals was significantly lower compared to those unlikely to have FH, suggesting a need for targeted lifestyle changes and medication adjustments.
Aims: Familial hypercholesterolemia (FH) is currently underdiagnosed and undertreated. The establishment of a FH registry could facilitate a deeper understanding of this disease. We described the clinical characteristics of subjects with FH from the Thai FH Registry, compared our data with the regional and global data, and identified gaps in the care of these subjects.
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- The study investigates the roles of ANGPTL3 and ANGPTL8 in lipid regulation among patients with high HDL-cholesterol and triglyceride levels, focusing on hyperalphalipoproteinemia (HALP) and severe hypertriglyceridemia (HTG).
- Plasma levels of ANGPTL3 and ANGPTL8 were significantly higher in HALP patients compared to healthy controls, with ANGPTL3 levels also elevated in the HTG group but not ANGPTL8.
- The findings suggest that ANGPTL3 and ANGPTL8 may have different functions in lipid regulation, particularly in extreme cases of dyslipidemia.
Article Synopsis
- - The study highlights the complexity of hereditary thrombocytopenia, emphasizing that diagnosing these diverse diseases based solely on symptoms (phenotypes) is challenging, and underscores the value of whole exome sequencing (WES) in improving patient management.
- - Seven female patients with long-standing unexplained thrombocytopenia participated, with clinical features including macrothrombocytopenia and, for some, bleeding issues; WES was effective in identifying 11 specific mutant alleles, including some not previously documented.
- - The results showcase the ability of WES to uncover genetic mutations associated with macrothrombocytopenia, enhancing the understanding of the disease and aiding in future correlations between genetic changes and clinical manifestations.
Severe hypertriglyceridemia (HTG) due to chylomicronemia is associated with acute pancreatitis and is related to genetic disturbances in several proteins involved in triglyceride (TG) metabolism. Lipase maturation factor 1 (LMF1) is a protein essential for the maturation of lipoprotein lipase (LPL). In this study, we examined the genetic spectrum of the gene among subjects with severe HTG and investigated the functional significance of 6 genetic variants .
View Article and Find Full Text PDFBackground: Severe hypertriglyceridemia usually results from a combination of genetic and environmental factors. Few data exist on the genetics of severe hypertriglyceridemia in Asian populations.
Objective: To examine the genetic variants of 3 candidate genes known to influence triglyceride metabolism, LPL, APOC2, and APOA5, which encode lipoprotein lipase, apolipoprotein C-II, and apolipoprotein A-V, respectively, in a large group of Thai subjects with severe hypertriglyceridemia.
Multimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domain.
J Biol Chem
July 2014
Article Synopsis
- GPIHBP1 is a protein that helps transport lipoprotein lipase (LPL) across microvascular endothelial cells, relying on its Ly6 domain to bind LPL.
- A point mutation in GPIHBP1 (Ser-107 to Cys) was found in a patient and two siblings with severe hypertriglyceridemia, leading to very low levels of LPL in their blood.
- The mutation caused GPIHBP1 to form disulfide-linked dimers and multimers instead of functioning as a monomer, preventing it from effectively binding LPL and contributing to the hypertriglyceridemia.