MyGP Irish Health Information Website Zellweger syndrome A genetic disorder, also called the cerebrohepatorenalsyndrome , characterized by the reduction or absence of peroxisomes (cell http://www.mygp.ie/DesktopModules/myGpHome/art.aspx?TabID=0&term=Zellweger syndr
Extractions: This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet ... Cited by other online articles PubMed PubMed Citation Articles by Santos, M. J. Articles by Leighton, F. October 1, 1985 Peroxisomal Organization in Normal and Cerebrohepatorenal (Zellweger) Syndrome Fibroblasts Manuel J. Santos, Jose Manuel Ojeda, Jorge Garrido, and Federico Leighton The reported absence of morphologically detectable peroxisomes in liver and kidney tissue cells from patients affected by the autosomic recessive, inherited metabolic disease known as cerebrohepatorenal, or Zellweger, syndrome was studied in fibroblasts, assuming it to be a generalized defect. Normal cultured fibroblasts were shown to contain peroxisomes according to morphological, biochemical, and subcellular fractionation criteria: particle-bound catalase and fatty acyl-CoA oxidase copurify in subcellular fractionation by differential centrifugation or isopycnic equilibrium in continuous density gradients and peroxidase-positive organelles of
Faculty: Amiya Hajra involving peroxisomal disorders, such as in Zellweger cerebrohepatorenalsyndrome (Fig.3), the tissues of the patients are deficient in ether lipids. http://www.mbni.med.umich.edu/mbni/faculty/hajra/hajra.html
Extractions: 4424 Med Sci I 0606 Our research has explored the mechanics and function of a phospholipid called acyl dihydroxyacetone phosphate (acyl DHAP). Our work has revealed that acyl DHAP plays a notable role in cell physiology and certain genetic disorders with far-reaching implications for human and animal biology. Our studies on the metabolism of acyl DHAP led to the discovery of a new lipid biosynthetic pathway, a novel biochemical reaction for the synthesis of ether bond in lipids, an unexpected subcellular site (peroxisomes) for lipid biogenesis in cells and the nature of biochemical defects in a number of genetic diseases involving peroxisomal disorders. Acyl DHAP was discovered as a trace radioactive lipid formed when liver mitochondria were incubated with 32P-labeled ATP. We found that this lipid is synthesized via enzymatic acylation of DHAP by long chain acyl coenzyme A. Acyl DHAP was then shown to be reduced by NADPH to lysophosphatidic acid, the precursor of all cellular lipids (Ref.1). This is an alternate pathway, as opposed to the glycerophosphate pathway, for the synthesis of glycerolipids (Fig.1).
