Inherited Retinal Dystrophy: Chronic Proinflammatory Signaling Accelerates the Rate of Degeneration

There are other genes bearing SNPs. This study is focused on genes with SIFT scores predicting the SNPs to be deleterious.

~ 10cd*s/m2

Over 175 genes were analyzed including peroxisome genes identified in the literature previously. No peroxisome genes were found to have predicted deleterious SNPs.

Currently we do not know as identifying these different subpopulations of macrophages is not possible using the current labeling, however, we are in collaboration with another group working on this topic.

Not typically, no. Most changes in the inner retina occur with remodeling to accommodate the loss of the rods and cones. This does change some of the circuitry, but this is more on a cell to cell level and not grossly observable.

That is a good question. It is hard to say but it is known that Müller cells experience hypertrophy and gliosis in retinal degenerations, so this is likely the source of the larger somas.

We typically use the same settings for laser power and gain and use a no primary, secondary only control to remove background and autofluorescence.

We have considered this and it is part of a study for which I was recently funded by the Knights Templar Eye Foundation. It is involving the delivery of anti-inflammatory molecules affecting cytokines.

That is not a question that is necessarily easy to answer. Most retinal degenerations are highly heterogenous and can even vary from person-to-person within the same family with the same mutation. It is possible that the combination of genes with SNPs preferentially affect photoreceptors in the superior central retina than other regions.

We actually use western blots to do most of our quantification when possible. Protein level is far more informative, especially in photoreceptors as they produce some proteins in amounts that exceed the amount of mRNA present for the gene.