NEW YORK (Reuters Health) - Findings from a new study suggest that missense mutations in the fibulin 5 gene are seen in a small percentage of patients with age-related macular degeneration (AMD). Variations in other fibulin genes were detected in the patients as well and the authors believe that they may also play a role in AMD.
As reported in The New England Journal of Medicine for July 22nd, Dr. Edwin M. Stone, from the University of Iowa in Iowa City, and colleagues analyzed DNA from 402 patients with AMD and 429 control subjects to look for variations in five fibulin genes.
Amino acid-altering variations were identified in all of the genes, some of which were confined to patients with AMD, the researchers note. Moreover, some of the variations were evolutionarily conserved.
In terms of the fibulin 5 gene, seven patients in the AMD group (1.7%) demonstrated a missense variation compared with none of the control subjects (p < 0.01). Clinically, these patients had small, circular drusen, typically called cuticular or basal laminar drusen.
These findings could “facilitate the development of a murine model of AMD,” which “would be useful in the search for drugs and other interventions for this common cause of blindness,” the authors note.
In a related editorial, Dr. Lincoln V. Johnson and Dr. Don H. Anderson, from the University of California at Santa Barbara, comment that “further investigation should help to clarify the contribution of fibulin mutations, as well as possible mutations in other genes associated with the microfibril-elastic fiber system, to the overall incidence of AMD.”
Source: N Engl J Med 2004;351:320-322,346-353. [ Google search on this article ]
MeSH Headings:Macular Degeneration: Mutation, MissenseCopyright © 2002 Reuters Limited. All rights reserved. Republication or redistribution of Reuters content, including by framing or similar means, is expressly prohibited without the prior written consent of Reuters. Reuters shall not be liable for any errors or delays in the content, or for any actions taken in reliance thereon. Reuters and the Reuters sphere logo are registered trademarks and trademarks of the Reuters group of companies around the world.
