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Editors Selection IGR 10-1
Clinical forms of glaucoma: Exfoliation glaucoma and glaucoma related genes
Comment by Mansoor Sarfarazi on:
20629 Analysis of nuclear and mitochondrial genes in patients with pseudoexfoliation glaucoma, Abu-Amero KK; Bosley TM; Morales J, Molecular Vision, 2008; 14: 29-36
Pseudoexfoliation syndrome (XFS), exfoliation glaucoma (XFG) is a secondary ocular condition with variable expression, affecting certain population more than others. The genetics of this condition has remained elusive so far, although its inheritance in the families has been well documented. The XFG is probably an autosomal dominant trait, but other modes of inheritance, including mitochondrial have been suggested. Only one exfoliation locus has so far been mapped to chromosome 18, but its defective gene is not identified as yet. Recent publications show strong associations between XFS/ XFG and LOXL1 gene polymorphisms in worldwide populations. The LOXL1 association is limited to the presence of exfoliation and does not include the glaucoma phenotype alone. Moreover, since no disease-causing mutations have been reported for the LOXL1 gene in XFS/XFG patients, the familial segregation of this phenotype is expected to be due to other gene defects or possibly unknown genetics-environmental factors. As a number of glaucoma-related genes have already been published, Abu-Amero et al. (282) opted to investigate these genes in a group of XFG patients. They used a group of 29 XFG patients and sequenced these individuals for the known glaucoma genes of MYOC, OPTN, CYP1B1, WDR36 and two optic neuropathy genes of OPA1 and OPA3 as well as the entire of mitochondrial genome (mtDNA). While most of these patients did not have a pathological change in the nuclear genes, three subjects (10.3%) showed mtDNA changes that were not present in their normal controls. However, Abu-Amero et al. concluded that such observation may not be significant. This study clearly indicates that genetic contribution to the etiology of XFG (or XFS) is very different from other glaucoma or optic neuropathy phenotypes. Furthermore, analysis of only 29 XFG may have not been sufficiently powerful to detect rare mutations in the nuclear or mitochondrial DNA of these patients.
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