Phytanic acid metabolism in health and disease

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• 作者：Ronald J.A. Wanders^a ; ^{r.j.wanders@amc.uva.nl"" rel=""nofollow} ; Jasper Komen^b ; Sacha Ferdinandusse^a
• 关键词：Peroxisome ; Refsum disease ; Fatty acid ; Phytanic acid ; Fatty acid oxidation
• 刊名：Biochimica et Biophysica Acta (BBA)/Molecular and Cell Biology of Lipids
• 出版年：2011
• 出版时间：September 2011
• 年：2011
• 卷：1811
• 期：9
• 页码：498-507
• 全文大小：1009 K

文摘

Phytanic acid (3,7,11,15-tetramethylhexadecanoic acid) is a branched-chain fatty acid which cannot be beta-oxidized due to the presence of the first methyl group at the 3-position. Instead, phytanic acid undergoes alpha-oxidation to produce pristanic acid (2,6,10,14-tetramethylpentadecanoic acid) plus CO₂. Pristanic acid is a 2-methyl branched-chain fatty acid which can undergo beta-oxidation via sequential cycles of beta-oxidation in peroxisomes and mitochondria. The mechanism of alpha-oxidation has been resolved in recent years as reviewed in this paper, although some of the individual enzymatic steps remain to be identified. Furthermore, much has been learned in recent years about the permeability properties of the peroxisomal membrane with important consequences for the alpha-oxidation process. Finally, we present new data on the omega-oxidation of phytanic acid making use of a recently generated mouse model for Refsum disease in which the gene encoding phytanoyl-CoA 2-hydroxylase has been disrupted.