PMID: 15375613Sep 18, 2004Paper

Evaluation of the ABCR and glutathione peroxidase-3 genes in familial and sporadic cases of exudative age-related macular degeneration

International Journal of Molecular Medicine
B S Shastry

Abstract

Age-related macular degeneration (ARMD) is the most common cause of blindness in older patients and is a major health care epidemic in developed countries. The exact cause of ARMD is not known. It has been recently reported that heterozygous missense ABCR mutations are associated with age-related macular degeneration. In addition, one of the susceptible loci for maculopathy is on chromosome 5 that is very close to the plasma glutathione peroxidase (GPX) gene. Since the retina is highly sensitive to peroxidation and the GPX gene product protects cells from oxidative damage, and the fact that the ABCR gene is considered as a major disease gene in macular degeneration we reasoned that they might serve as candidate genes in a subset of ARMD cases. To test our hypothesis, we have carried out a pilot study by analyzing 8 exudative ARMD patients for allelic variations in the GPX gene and three statistically significant mutations in the ABCR gene (R943Q, G1961E and D2177N). Our analysis failed to identify the above three major alterations in the ABCR gene as well as mutations in the coding sequence of the GPX gene. However, we have been able to identify two polymorphic heterozygous mutations in the promoter region of the GPX gene in on...Continue Reading

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Related Papers

Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde
B S Shastry
International Journal of Molecular Medicine
Sarah KleinbergB S Shastry
Nepalese Journal of Ophthalmology : a Biannual Peer-reviewed Academic Journal of the Nepal Ophthalmic Society : NEPJOPH
P GautamS N Joshi
© 2021 Meta ULC. All rights reserved