By a News Reporter-Staff News Editor at Gene Therapy Weekly -- Investigators discuss new findings in Biotechnology. According to news originating from Tubingen, Germany, by NewsRx correspondents, research stated, "Human X-linked blue-cone monochromacy (BCM), a disabling congenital visual disorder of cone photoreceptors, is a candidate disease for gene augmentation therapy. BCM is caused by either mutations in the red (OPN1LW) and green (OPN1MW) cone photoreceptor opsin gene array or large deletions encompassing portions of the gene array and upstream regulatory sequences that would predict a lack of red or green opsin expression."
Our news journalists obtained a quote from the research from the University of Tubingen, "The fate of opsin-deficient cone cells is unknown. We know that rod opsin null mutant mice show rapid postnatal death of rod photoreceptors. Using in vivo histology with high-resolution retinal imaging, we studied a cohort of 20 BCM patients (age range 5-58) with large deletions in the red/green opsin gene array. Already in the first years of life, retinal structure was not normal: there was partial loss of photoreceptors across the central retina. Remaining cone cells had detectable outer segments that were abnormally shortened. Adaptive optics imaging confirmed the existence of inner segments at a spatial density greater than that expected for the residual blue cones."
According to the news editors, the research concluded: "The evidence indicates that human cones in patients with deletions in the red/green opsin gene array can survive in reduced numbers with limited outer segment material, suggesting potential value of gene therapy for BCM."
For more information on this research see: Human Cone Visual Pigment Deletions Spare Sufficient Photoreceptors to Warrant Gene Therapy. Human Gene Therapy, 2013;24(12):993-1006. Human Gene Therapy can be contacted at: Mary Ann Liebert, Inc, 140 Huguenot Street, 3RD Fl, New Rochelle, NY 10801, USA. (Mary Ann Liebert, Inc. - www.liebertpub.com; Human Gene Therapy - www.liebertpub.com/overview/human-gene-therapy-and-part-b-methods/19/)
The news correspondents report that additional information may be obtained from A.V. Cideciyan, University of Tubingen, Center Ophthalmol, Inst Ophthalm Res, Mol Genet Lab, D-72076 Tubingen, Germany. Additional authors for this research include R.B. Hufnagel, J. Carroll, A. Sumaroka, X. Luo, S.B. Schwartz, A. Dubra, M. Land, M. Michaelides, J.C. Gardner, A.J. Hardcastle, A.T. Moore, R.A. Sisk, Z.M. Ahmed, S. Kohl, B. Wissinger and S.G. Jacobson (see also technology.html">Biotechnology).
Keywords for this news article include: Biotechnology, Pharmaceuticals, Europe, Germany, Tubingen, Gene Therapy, Bioengineering
Our reports deliver fact-based news of research and discoveries from around the world. Copyright 2014, NewsRx LLC