Hepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis form

FEBS Lett. 2008 Jan 23;582(2):279-85. doi: 10.1016/j.febslet.2007.12.017. Epub 2007 Dec 18.

Abstract

Non-bullous congenital ichthyosis erythroderma (NCIE) and lamellar ichthyosis (LI) are characterized by mutations in 12R-lipoxygenase (12R-LOX) and/or epidermal lipoxygenase 3 (eLOX3) enzymes. The eLOX3 lacks oxygenase activity, but is capable of forming hepoxilin-type products from arachidonic acid-derived hydroperoxide from 12R-LOX, termed 12R-hydroperoxyeicosa-5,8,10,14-tetraenoic acid (12R-HpETE). Mutations in either of two enzymes lead to NCIE or LI. Moreover, 12R-LOX-deficient mice exhibit severe phenotypic water barrier dysfunctions. Here, we demonstrate that 12R-HpETE can also be transformed to 8R-HXA(3) by hepoxilin A(3) (HXA(3)) synthase (12-lipoxygenase), which exhibits oxygenase activity. We also presented a novel form of ichthyosis in a patient, termed hepoxilin A(3) synthase-linked ichthyosis (HXALI), whose scales expressed high levels of 12R-LOX, but were deficient of HXA(3) synthase.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Arachidonate 12-Lipoxygenase / genetics*
  • Arachidonate 12-Lipoxygenase / metabolism
  • Base Sequence
  • Chromatography, High Pressure Liquid
  • DNA Primers
  • Gas Chromatography-Mass Spectrometry
  • Humans
  • Ichthyosiform Erythroderma, Congenital / enzymology*
  • Ichthyosiform Erythroderma, Congenital / genetics
  • Intramolecular Oxidoreductases / genetics*
  • Intramolecular Oxidoreductases / metabolism
  • Lipoxygenase / genetics
  • Male
  • Mice
  • Middle Aged
  • Mutation
  • Recombinant Proteins / genetics
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • DNA Primers
  • Recombinant Proteins
  • Lipoxygenase
  • eLOX3 protein, mouse
  • Arachidonate 12-Lipoxygenase
  • Intramolecular Oxidoreductases
  • hepoxilin synthase