Elevated plasma triglyceride (TG) and reduced high density lipoprotein (HDL) concentrations are prominent features of metabolic syndrome (MS) and type 2 diabetes (T2D). Individuals with Tangier disease also have elevated plasma TG concentrations and a near absence of HDL, resulting from mutations in ATP binding cassette transporter A1 (ABCA1), which facilitates the efflux of cellular phospholip...

Over 100 mutations in the myophosphorylase gene, which cause McArdle disease, are known. All these mutations have resulted in a complete block of muscle glycogenolysis, and accordingly, no genotype-phenotype correlation has been identified in this condition. We evaluated physiologic and genetic features of two patients with a variant form of McArdle disease, associated with unusually high exerc...

Phosphatidylserine (PtdSer) is synthesized in mammalian cells by two base-exchange enzymes: PtdSer synthase (PSS)-1 primarily uses phosphatidylcholine as a substrate for exchange with serine, whereas PSS2 uses phosphatidylethanolamine (PtdEtn). We previously expressed murine PSS1 in McArdle hepatoma cells. The activity of PSS1 in vitro and the synthesis of PtdSer and PtdSer-derived PtdEtn were ...

The effects and interaction between cAMP-analogue dibutyryl-cAMP and calmodulin antagonists were investigated on de novo synthesis and secretion of lipids in cultures of hepatoma McArdle-RH7777 cells and normal rat hepatocytes. Dibutyryl cAMP caused a significant decrease in the secretion of de novo synthesized triacyl [3H] glycerol in both cultures of McArdle cells and rat hepatocytes. The ...

The effects and interaction between cAMP-analogue dibutyryl-cAMP and calmodulin antagonists were investigated on de novo synthesis and secretion of lipids in cultures of hepatoma McArdle-RH7777 cells and normal rat hepatocytes. Dibutyryl cAMP caused a significant decrease in the secretion of de novo synthesized triacyl [3H] glycerol in both cultures of McArdle cells and rat hepatocytes. The ...

The effects and interaction between cAMP-analogue dibutyryl-cAMP and calmodulin antagonists were investigated on de novo synthesis and secretion of lipids in cultures of hepatoma McArdle-RH7777 cells and normal rat hepatocytes. Dibutyryl cAMP caused a significant decrease in the secretion of de novo synthesized triacyl [3H] glycerol in both cultures of McArdle cells and rat hepatocytes. The ...

The potential role of the very low density lipoprotein (VLDL) receptor in mediating VLDL-induced plasminogen activator inhibitor-1 (PAI-1) expression was studied in vitro. Cultured endothelial cells incubated with VLDL showed an increased secretion of PAI-1. This response to VLDL could be completely prevented by the receptor-associated protein (RAP) and partially blocked by rabbit polyclonal an...

McArdle disease (muscle glycogenosis type V) is a disease caused by myophosphorylase deficiency leading to "blocked" glycogen breakdown. A significant but varying glycogen accumulation in especially distal hind limb muscles of mice affected by McArdle disease has recently been demonstrated. In this study, we investigated how myophosphorylase deficiency affects glucose metabolism in hind limb mu...

A patient with McArdle disease underwent bowel surgery with general anesthesia and was successfully managed. McArdle disease is a rare skeletal muscle disorder affecting approximately 1 in 100,000 people. McArdle disease, also known as type V glycogen storage disease, is an autosomal recessive inherited condition caused by a missing or nonfunctioning enzyme called myophosphorylase C. This phosp...