Peroxisome biogenesis disorder

Gould SJ et al The peroxisome biogenesis disorders. In The Metabolic and Molecular Bases of Inherited Disease, 8th ed. Scriver CR et al (editors). McGraw-Hill, 2001. 

Barth, P. G., Majoie, C. B., Gootjes, J. et al. Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival. Neurology 62 439-444, 2004. 

PBD peroxisome biogenesis disorders PTEN phosphatase and tensin homolog... 

Fujiki, Y (2000). Peroxisome biogenesis and peroxisome biogenesis disorders. FEBSLett. 476, 42-46. 

Gartner J, Preuss N. Brosius U. Biermanns M. Mutations in PEXl in peroxisome biogenesis disorders G843D and a mild clinical phenotype. J Inherited Metab Dis 1999 22(3) 311-313. 

Austead N. Innis SM. de la Presa Owens S. Auditory evoked response and brain phospholipids fatty acids and monoamines in rats fed formula with out without arachidonic acid (AA) and/or docosahexaenoic acid (DHA). Brain Uptake and Utilization of Fatty Acids. Conference Organizations W atkins P, Spector A, Hamilton J. Katz. R. Applications to Peroxisomal Biogenesis Disorders. National Institutes of Health Conference, Bethesda. MD, 2000, p. 3. 

Gould, S. J., and D. Valle. 2000. Peroxisome biogenesis disorders genetics and cell biology. Trends Genet. 16 340-345. 

Evidence in favor of peroxisomal involvement in cholesterol biosynthesis is the following. The molecular cloning of cDNAs encoding many of these enzymes revealed peroxisomal targeting sequences (W.J. Kovacs, 2003). The availability of specific antibodies allowed immunocytochemical localization to peroxisomes [4] (W.J. Kovacs, 2006). Fibroblasts from individuals with peroxisome biogenesis disorders showed reduced enzymatic activities of cholesterol biosynthetic enzymes, reduced rates of cholesterol synthesis, and lower cholesterol content [4]. Together these data suggest that peroxisomes may play a role in all steps in the cholesterol biosynthetic pathway, except the conversion of famesyl-PP to squalene. The latter reaction is catalyzed by squalene synthase, which is found. solely in the ER. 

Not all investigators are convinced that peroxisomes are involved in cholesterol biosynthesis. In contrast to Olivier and Krisans [4], Hogenboom and colleagues have found no deficiency in cholesterol biosynthesis in fibroblasts from patients with a peroxisomal biogenesis disorder (S. Hogenboom, 2003). In addition, using a variety of biochemical and microscopic techniques, they found that mevalonate kinase, phospho-mevalonate kinase, and mevalonate pyrophosphate decarboxylase are cytosolic, not peroxisomal enzymes (S. Hogenboom, 2004). 

Rhizomelic chondrodysplasia punctata Type 1 (RCDP) Peroxisomal biogenesis disorder... 

Brosius, U and Gartner, J (2002) CeUular and molecular aspects of Zellweger syndrome and other peroxisome biogenesis disorders. Cell Mol Life Sci, 59, 1058-1069. 

The growing list of disorders of peroxisomal function, divided into peroxisome biogenesis disorders (PBD) and defects of isolated peroxisomal enzymes, requires selective markers for their biochemical detection. One of the functions of the peroxisomes is the -oxidation of substances that cannot be handled by the mitochondria such as very long-chain (C24-C26)... 

Fig. 25.6. Flow chart for the differential diagnosis of patients suffering from a peroxisome biogenesis disorder (PBD) or a peroxisomal -oxidation disorder (POD)...

Peroxisome Biogenesis Disorders (PBDs) and the Peroxisomal -Oxidation Disorders (PODs) (Fig. 25.6)... 

Austed, N., Innis, S.M., and De la Pressa Owens, S. 2000. Brain uptake and utilization of fatty acids applications to peroxisomal biogenesis diseases. In M. Watkins, P., Spector, A., Hamilton, J., and Katz, R. eds. National Institutes of Health Conference (Ed.), Brain uptake and utilization of fatty acids Applications to peroxisomal biogenesis disorders (Vol. 16, p. 3). 

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