Disruption of FADS2 gene in mice impairs male reproduction and causes dermal and intestinal ulceration

J Lipid Res. 2009 Sep;50(9):1870-80. doi: 10.1194/jlr.M900039-JLR200. Epub 2009 Apr 7.

Abstract

Delta-6 desaturase (D6D) catalyzes the first step in the synthesis of highly unsaturated fatty acids (HUFA) such as arachidonic (AA), docosapentaenoic (DPAn-6), and docosahexaenoic (DHA) acids, as well as the last desaturation of DPAn-6 and DHA. We created D6D-null mice (-/-), which enabled us to study HUFA deficiency without depleting their precursors. In -/-, no in vivo AA synthesis was detected after administration of [U-(13)C]linoleic acid (LA), indicating absence of D6D isozyme. Unexpectedly, all of the -/- developed ulcerative dermatitis when fed a purified diet lacking D6D products but containing ample LA. The -/- also exhibited splenomegaly and ulceration in duodenum and ileocecal junction. Male -/- lacked normal spermatozoa with a severe impairment of spermiogenesis. Tissue HUFAs in -/- declined differentially: liver AA and DHA by 95%, and a smaller decrease in brain and testes. Dietary AA completely prevented dermatitis and intestinal ulcers in -/-. DPAn-6 was absent in -/- brain under AA supplementation, indicating absence of D6D isozyme for DPAn-6 synthesis from AA. This study demonstrated a distinct advantage of the D6D-null mice (-/-) to elucidate (1) AA function without complication of LA deprivation and (2) DHA function in the nervous system without AA depletion or DPAn-6 replacement seen in traditional models.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animals
  • Brain / drug effects
  • Brain / metabolism
  • Dermatitis / genetics
  • Dietary Supplements
  • Fatty Acids, Unsaturated / biosynthesis
  • Fatty Acids, Unsaturated / metabolism
  • Female
  • Gene Expression Regulation, Enzymologic
  • Gene Knockout Techniques
  • Hepatomegaly / genetics
  • Infertility, Male / genetics
  • Intestines / pathology*
  • Linoleoyl-CoA Desaturase / deficiency*
  • Linoleoyl-CoA Desaturase / genetics*
  • Linoleoyl-CoA Desaturase / metabolism
  • Male
  • Mice
  • Organ Specificity
  • Phenotype
  • Reproduction / genetics*
  • Skin Ulcer / etiology
  • Skin Ulcer / genetics*
  • Skin Ulcer / metabolism
  • Skin Ulcer / pathology
  • Splenomegaly / genetics
  • Ulcer / etiology
  • Ulcer / genetics*
  • Ulcer / metabolism
  • Ulcer / pathology

Substances

  • Fatty Acids, Unsaturated
  • Linoleoyl-CoA Desaturase