We’ve got a new manuscript, “The role of ELOVL4 and very long chain polyunsaturated fatty acids in mouse models of Stargardt type 3 retinal degeneration” with Peter Barabas, Aihua Liu, Wei Xing, Ching-Kang Jason Chen, Zongzhong Tong, Carl B. Watt, myself, Paul S Bernstein and David Križaj.
This work essentially corrects the previously believed understanding that lack of very long chain fatty acids in photoreceptor cells caused blindness in children with Stargardt type 3 retinal degeneration. Stargardt’s type 3 is a genetic defect in the ELOVL4 gene, which encodes an enzyme that converts fatty acids obtained through diet into forms that can be built into cellular membranes. David’s lab here at the John A. Moran Eye Center bred mice lacking very long chain fatty acids specifically in the photoreceptor cells and nowhere else and found that the eyesight of the mice had no defects in photopic or day and scotopic or night light levels. This of course means that lack of very long chain fatty acids does not compromise the visual process and that the cause for blindness in kids with Stargart’s type 3 is unknown, but it also means that we will not be chasing down bad leads in the quest to find a cure for this disease.
This also is a prime example of why negative scientific results need to be published. There is huge pressure for scientists to report positive findings, and historically, negative results have been harder to publish. However, corrective science is part of the process and needs just as much attention.