Publication Date:
1979-03-16
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Hanson, R F -- Szczepanik-VanLeeuwen, P -- Williams, G C -- Grabowski, G -- Sharp, H L -- New York, N.Y. -- Science. 1979 Mar 16;203(4385):1107-8.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/424737" target="_blank"〉PubMed〈/a〉
Keywords:
Bile Acids and Salts/*biosynthesis/urine
;
Humans
;
Infant
;
Intellectual Disability/*metabolism
;
Kidney Diseases, Cystic/*metabolism
;
Liver Diseases/*metabolism
;
Mitochondria, Liver/metabolism/pathology
;
Syndrome
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
Permalink
