Disease relevance of OPTN

• PURPOSE: It has been shown that mutations in the optineurin (OPTN) gene are involved in the etiology of adult-onset primary open-angle glaucoma (POAG) [1].
• High similarity of ocular expression and tissue distribution between the two optineurin proteins suggests that this nonhuman primate is a suitable model for the pathophysiology and treatment of human glaucomatous optic neuropathy [1].

High impact information on OPTN

• A further purpose was to establish Rh-OPTN protein expression profiles and tissue distribution in the rhesus anterior segment, retina, and optic nerve [1].
• Both cDNA and amino acid sequences are 96% identical with the human OPTN [1].
• In a study of 54 families with autosomal dominantly inherited adult-onset POAG, we identified the causative gene on chromosome 10p14 and designated it OPTN (for "optineurin") [2].
• Sequence alterations in OPTN were found in 16.7% of families with hereditary POAG, including individuals with normal intraocular pressure [2].
• Optineurin is expressed in trabecular meshwork, nonpigmented ciliary epithelium, retina, and brain, and we speculate that it plays a neuroprotective role [2].

Analytical, diagnostic and therapeutic context of OPTN

• Molecular cloning and expression profiling of optineurin in the rhesus monkey [1].

References