Very long chain polyunsaturated fatty acids and rod cell structure and function

Adv Exp Med Biol. 2014:801:637-45. doi: 10.1007/978-1-4614-3209-8_80.


The gene encoding Elongation of Very Long Chain Fatty Acids-4 (ELOVL4) is mutated in patients with autosomal dominant Stargardt's Macular Dystrophy Type 3 (STDG3). ELOVL4 catalyzes the initial condensation step in the elongation of polyunsaturated fatty acids (PUFA) containing more than 26 carbons (26C) to very long chain PUFA (VLC-PUFA; C28 and greater). To investigate the role of VLC-PUFA in rod photoreceptors, we generated mice with rod-specific deletion of Elovl4 (RcKO). The mosaic deletion of rod-expressed ELOVL4 protein resulted in a 36 % lower amount of VLC-PUFA in the retinal phosphatidylcholine (PC) fraction compared to retinas from wild-type mice. However, this reduction was not sufficient to cause rod dysfunction at 7 months or photoreceptor degeneration at 9 or 15 months.

Publication types

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

MeSH terms

  • Animals
  • Electroretinography
  • Eye Proteins / genetics
  • Eye Proteins / metabolism*
  • Fatty Acids, Unsaturated / metabolism*
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism*
  • Mice
  • Mice, Mutant Strains
  • Mosaicism
  • Phosphatidylcholines / metabolism*
  • Retinal Degeneration / genetics
  • Retinal Degeneration / metabolism*
  • Retinal Rod Photoreceptor Cells / cytology*
  • Retinal Rod Photoreceptor Cells / metabolism*


  • Elovl4 protein, mouse
  • Eye Proteins
  • Fatty Acids, Unsaturated
  • Membrane Proteins
  • Phosphatidylcholines