A new publication from the laboratory of Val Sheffield, M.D., Ph.D., focuses on the role of a specific protein complex found in photoreceptor cells and its role in retinal degeneration in a blinding disorder known as Bardet-Biedl syndrome (BBS). This protein complex is called the BBSome. Ying Hsu and Janelle Garrison, a graduate student and postdoctoral fellow respectively, who performed much of the work, demonstrated that the BBSome is indispensable for the initial formation and continued maintenance of the outer segment, the light sensing component of photoreceptor cells. The study also shows that photoreceptors have the ability to replace malformed outer segments with normal outer segments following early BBSome gene replacement. This illustrates the possibility of successful gene replacement therapy in patients with BBS and other inherited retinal disorders that affect the outer segment. One significant step forward and more to come!
The complete article is freely available at: http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1007057