Researchers identify genetic cause of inherited blindness.
Regensburg – During the unravelling of a transcriptional network in photoreceptors, German and US researchers have identified a novel gene that affects the inherited retinal disease Retinitis pigmentosa (type 28). In a ChIP-Seq-based approach, the team at German biotech firm Genomatix and researchers from the universities of St. Louis and Regensburg identified that a null mutation, which prevents the transcription factor Crx (Cone-rod homeobox) from activating the human FAM161A gene, causes the degenerative retinal disease that ultimately leads to progressive loss of vision (Genome Res. 2010 (11):1512-25). The FAM161A protein localises to photoreceptor cells during development, and in adult animals is present in the inner segment as well as the outer plexiform layer of the retina, the synaptic interface between photoreceptors and their efferent neurons. According to Genomatix board member Dr. Martin Seifert, the findings open up an improved understanding of the disease mechanism, with long-term perspectives towards diagnosis and a potential therapy.