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Fibulin gene defects linked to AMD

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Subtle defects in a single gene are associated with some cases of age-related macular degeneration, according to a study published this week.

Because AMD “is actually as many as 50 diseases” that look so familiar clinicians identify them as one, identifying the genes responsible will help researchers and patients, said Edwin M. Stone, MD, PhD.

“Looking for genetic causes of AMD is potentially very meaningful because it will help us identify the mechanisms of the disease,” Dr. Stone said in a press release from the Howard Hughes Medical Institute at the University of Iowa.

Dr. Stone and colleagues in Iowa and at the University of Southampton, England, studied genetic patterns in 402 patients with AMD and 429 control patients. All subjects were examined with indirect ophthalmoscopy, slit-lamp microscopy and fundus photography to establish the presence and pattern of AMD. Blood samples from the study participants were used to extract DNA that was then examined for fibulins, a type of protein, Dr. Stone said.

Fibulins were chosen because earlier studies indicated a mutation in one of the fibulin genes created a disease that closely resembled AMD, according to the press release. The researchers studied five fibulin genes for variations that could affect the function of the resulting fibulin proteins, they said.

Variations existed in four of the five genes that could have contributed to AMD, “but these changes were not statistically significant in terms of their comparative occurrence in AMD patients and healthy controls,” according to the press release.

Seven of the 402 participants with AMD each had a different change in the FBLN5 gene that was not present in participants without AMD. Six of the seven alterations involved an amino acid in the protein that has been highly conserved during evolution, the researchers said.

“This experiment suggests that in reality a significant genetic cause of AMD may affect only 2% of the total,” said Timothy Schoen, director of the medical therapy group at the Foundation Fighting Blindness. “Fifteen years ago, we and others believed that there would be a single gene that would be responsible for a substantial percentage of AMD.”

The study is published in the July 22 issue of The New England Journal of Medicine.