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Researchers Isolate Degenerative Eye Gene
By
William Mc Call, Sunspot.net, the Associated Press
October 22, 2003
PORTLAND
,
Ore.
-- In what may be an important step toward preventing blindness in old
age, scientists have identified a gene believed to be responsible for a
degenerative eye disease that could strike millions of baby boomers as
they grow older.
The gene is suspected of being the main cause of some cases of age-related
macular degeneration, or AMD, a complex disease triggered by various
factors. It typically affects people 65 and older.
Researchers at
Oregon
Health & Science
University
were able to pinpoint the gene by tracking it through a large extended
family with a history of the disease.
"We were really lucky to get a single family that large with 10
affected members," said Dennis Schultz, an
Oregon
Health & Science
University
biochemist who led the research at the university's Casey Eye Institute.
In age-related macular degeneration, the most sensitive area of the retina
breaks down, robbing a person of the fine vision needed to read a book or
recognize a face. In severe cases, it can lead to almost total blindness.
About 6 million Americans suffer from AMD, a number that is predicted to
double by the year 2030 as the baby boomer generation ages. There are
treatments for the disease, but the goal is prevention.
Dr. Johanna Seddon, a Harvard researcher, said more studies will have to
be done to establish whether the gene is the single source of some cases
of AMD. If the gene proves to be the source, it is possible gene therapy
could be used to delay or even prevent the disease, she said.
"But I think that's still quite a way off," Seddon said.
The study was published Tuesday in the online version of the journal Human
Molecular Genetics and will appear in print in the December issue.
Genes that play a role in forms of macular degeneration that affect
younger people have been identified. But this is the first solid evidence
of a genetic cause for the age-related form, researchers said.
"I think it's really exciting," said Dr. Michael Gorin, a
University
of
Pittsburgh
eye specialist and leading AMD researcher. "This is an important step
along the long and arduous path toward understanding the complexity of
this disease."
But he warned there are many other factors that contribute to age-related
macular degeneration, including other genes, as well as environmental
factors, such as smoking.
In a related study announced Monday, a
University
of
Kentucky
researcher said he has created for the first time genetically modified
mice that have virtually all the important features of AMD. That could
advance research on the disease.
The study by Jayakrishna Ambati and his team will be published in the
November issue of Nature Medicine.
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