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Science 16 March 1979:
Vol. 203. no. 4385, pp. 1107 - 1108
DOI: 10.1126/science.424737
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Articles

Science, Vol 203, Issue 4385, 1107-1108
Copyright © 1979 by American Association for the Advancement of Science

articles

Defects of bile acid synthesis in Zellweger's syndrome

RF Hanson, P Szczepanik-VanLeeuwen, GC Williams, G Grabowski, and HL Sharp

Abnormal mitochondrial structure and function have been documented in patients with Zellweger's syndrome (cerebrohepatorenal syndrome). In vitro studies have suggested that the formation of C24 bile acids (chenodeoxycholic acid and cholic acid) from C27 cholesterol requires mitochondrial oxidative clevage of the terminal three carbons of the side chain. Therefore, three patients with Zellweger's syndrome were examined for the presence of mitochondrial defects in bile acid synthesis. All three excreted excessive amounts of 3 alpha, 7 alpha-dihydroxy-5 beta-cholestan-26-oicacid, 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestan-26-oic acid, and 3 alpha, 7 alpha, 12 alpha, 24 xi-tetrahydroxy-5 beta-cholestan-26-oic acid (varanic acid), precursors of chenodeoxycholic acid and cholic acid that have undergone only partial side chain oxidation. These findings give added support to the role of mitochondrial oxidative side chain cleavage in the overall scheme of bile acid synthesis.


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