Download e-book for kindle: Advances in Human Genetics 21 by Hugo W. Moser (auth.), Harry Harris, Kurt Hirschhorn (eds.)

By Hugo W. Moser (auth.), Harry Harris, Kurt Hirschhorn (eds.)

ISBN-10: 146136311X

ISBN-13: 9781461363118

ISBN-10: 1461530105

ISBN-13: 9781461530107

The present quantity contains chapters on peroxisomal issues, genetic elements of melanoma, Gaucher sickness, and different topics.

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Extra resources for Advances in Human Genetics 21

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Induction of Peroxisome Proliferation Hess et al. (1965) were the first to show that hypolipemic agents such as clofibrate and industrial phthalate plasticizers resulted in proliferation of liver peroxisomes. This proliferation accounts for the striking liver enlargement produced by these agents in rodents. The administration of peroxisome proliferators has facilitated the study of peroxisome function: The initial demonstration that peroxisomes played a role in fatty acid ~-oxidation was conducted in clofibratetreated rats (Lazarow, 1978).

It is likely that the neuronal migration defect is the principal cause of the seizures, hypotonia, and profound mental retardation associated with the Zellweger syndrome. , 1975). , 1983). , 1981). The liver is enlarged in 78% of patients and fibrotic in 76%. Cholestasis was present in 59% and micronodular cirrhosis in 37% (Heymans, 1984). , 1976). Renal cysts were observed in 78 of 80 patients who were studied pathologically (Heymans, 1984). , 1981). , 1985). The changes in the adrenal gland are similar to those in X-linked ALD (see TABLE III.

The glyoxylate cycle does not exist in humans and other mammals, and the main sources of glyoxylic acid are uncertain (Hillman, 1989), although glycine and ascorbic acid have been implicated. In hyperoxaluria type 1 (see p. 75) the defective AGT leads to conversion of glyoxylate to oxalic acid, which is produced in large quantities. It seems unlikely that there would be enough ascorbic acid to provide large quantities of the oxalic acid precursor, and while glycine could theoretically serve as a major source, the flux of the reaction appears to be in the direction of glycine (Hillman, 1989).

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Advances in Human Genetics 21 by Hugo W. Moser (auth.), Harry Harris, Kurt Hirschhorn (eds.)


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