By Hugo W. Moser (auth.), Harry Harris, Kurt Hirschhorn (eds.)
The present quantity contains chapters on peroxisomal problems, genetic features of melanoma, Gaucher sickness, and different topics.
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Extra info for Advances in Human Genetics 21
09 ± ± ± ± 36 Hugo W. Moser The accumulation of VLCFA in the disorders of peroxisome biogenesis is almost certainly due to the great reduction of tissue levels of peroxisomal ~-oxidation enzymes. , 1985; Y. , 1986). , 1987). As discussed above, the deficiency of these peroxisomal ~-oxidation enzymes is due to their failure to be imported into the peroxisome and their rapid degradation in the cytosol. Impaired Synthesis of Plasmalogens. The report of Hajra and Bishop (1982) that the initial steps of plasmalogen synthesis take place in the peroxisome led the Dutch investigators to examine this function in patients with the Zellweger syndrome.
The chemistry, occurrence, and metabolism of these substances have been reviewed recently (Rezanka, 1989). , 1982a; A. B. , 1990; Poulos et al. , 1985; Martinez, 1989) and this finding forms the basis of the most widely used diagnostic assay (see p. 46). Table V shows the changes in plasma levels observed in our clinic. The abnormality is greater in the Zellweger syndrome than in NALD and infantile Refsum disease. Poulos and associates have demonstrated the accumulation of polyenoic fatty acids with chain lengths up to 38 in the brain (Sharp et al.
Ethanol Oxidation While most ethanol is oxidized by the cytosolic alcohol dehydrogenase, 525% of alcohol clearance is insensitive to inhibitors of alcohol dehydrogenase, 16 Hugo W. , 1973). Peroxisomal Membrane Proteins The study of peroxisomal membrane proteins (PMP) is of key importance to understanding the disorders of peroxisome biogenesis, since, as will be discussed later, these disorders appear to represent a failure of the mechanisms that normally import proteins into the peroxisome, and this import process clearly must involve the peroxisomal membrane.