By Hugo W. Moser (auth.), Harry Harris, Kurt Hirschhorn (eds.)
The present quantity contains chapters on peroxisomal problems, genetic points of melanoma, Gaucher illness, and different topics.
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Extra info for Advances in Human Genetics 21
1989). The only exception is the study of Aikawa et al. (1987), who reported a deficiency of 22-,26-, and 70-kD PMP in the postmortem liver of one patient with Zellweger syndrome. The reason for the discrepancy between this report and the others is not clear. While it may be due to technical factors, the 32 Hugo W. Moser complementation analyses discussed below show that there is genetic heterogeneity, and it is possible that in some patients the failure to form the peroxisome is due to a defect in membrane protein synthesis.
1981). , 1985). The changes in the adrenal gland are similar to those in X-linked ALD (see TABLE III. Diagnostically Significant Abnormalities in Zellweger Syndrome 1. Peroxisomes absent or reduced in number 2. 3. 4. 5. 6. 7. 8. Catalase in cytosol Deficient synthesis and reduced tissue levels of plasmalogens Defective oxidation and abnormal accumulation of very long-chain fatty acids Deficient oxidation and age-dependent accumulation of phytanic acid Defects in certain steps of bile acid formation and accumulation of bile acid intermediates Defect in oxidation and accumulation of L-pipecolic acid Increased urinary excretion of dicarboxylic acids From Lazarow and Moser, 1989.
Induction of proliferation of liver peroxisomes is associated with a striking 20- to 30-fold increase in the activity of the fatty acid ~-oxidation system. Other peroxisomal enzymes, such as catalase, are induced to a much lesser extent (twofold). , 1986). Hijikata et al. (1987) have noted three sequences in the 5 '-flanking region that are common to the inducible fatty acid oxidation enzymes. , 1987). This receptor protein may be related to the steroid hormone receptor superfamily (Issemann and Green, 1990).
Advances in Human Genetics 21 by Hugo W. Moser (auth.), Harry Harris, Kurt Hirschhorn (eds.)