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Int J Biol Sci 2007; 3(2):111-119. doi:10.7150/ijbs.3.111

Research Paper

Essential role of Elovl4 in very long chain fatty acid synthesis, skin permeability barrier function, and neonatal survival

D. Joshua Cameron1 2 *, Zongzhong Tong1 2 *, Zhenglin Yang1 2, Jack Kaminoh1 2, Shin Kamiyah1 2, Haoyu Chen1 2, Jiexi Zeng1 2, Yali Chen1 2, Ling Luo1 2, Kang Zhang1 2

1. Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
2. Program in Human Molecular Biology & Genetics, Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
* Contributed equally to this work.

Abstract

Mutations in the gene ELOVL4 have been shown to cause stargardt-like macular dystrophy. ELOVL4 is part of a family of fatty acid elongases and is yet to have a specific elongase activity assigned to it. We generated Elovl4 Y270X mutant mice and characterized the homozygous mutant as well as homozygous Elovl4 knockout mice in order to better understand the function or role of Elovl4. We found that mice lacking a functional Elovl4 protein died perinatally. The cause of death appears to be from dehydration due to faulty permeability barrier formation in the skin. Further biochemical analysis revealed a significant reduction in free fatty acids longer than C26 in homozygous mutant and knockout mouse skin. These results implicate the importance of these long chain fatty acids in skin barrier development. Furthermore, we suggest that Elovl4 is likely involved in the elongation of C26 and longer fatty acids.

Keywords: ELOVL4, fatty acids, skin, STGD3, mouse model.

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How to cite this article:
Cameron DJ, Tong Z, Yang Z, Kaminoh J, Kamiyah S, Chen H, Zeng J, Chen Y, Luo L, Zhang K. Essential role of Elovl4 in very long chain fatty acid synthesis, skin permeability barrier function, and neonatal survival. Int J Biol Sci 2007; 3(2):111-119. doi:10.7150/ijbs.3.111. Available from http://www.ijbs.com/v03p0111.htm