Researchers at the UConn Health
Center have discovered a gene that causes adult
onset primary open-angle glaucoma - the most common
form of glaucoma.

Mansoor Sarfarazi, director of the
Molecular Ophthalmic Genetics Laboratory and
professor of human genetics in the Surgical
Research Center, Department of Surgery, and
graduate assistant Tayebeh Rezaie, published the
work in the Feb. 8 issue of Science.

Primary open-angle glaucoma
affects 2.4 million Americans and more than 33
million people worldwide. After cataracts, it is
the second largest cause of blindness. Although
there is no cure, medication or surgery are
effective treatments.

The discovery of the gene causing
primary open-angle glaucoma makes possible the
development of precision testing for those who
might have it, and target-specific
therapies.

"We're very excited about the
discovery of this glaucoma gene," says Sarfarazi.
"What's most significant is that now we have the
ability to identify the disease and make a
pre-symptomatic diagnosis. Decades before even the
first signs of the disease have occurred, we will
know who is at risk and can take preventive
action."

Peter J. Deckers, dean of the
UConn School of Medicine and executive vice
president of the Health Center, says Sarfarazi's
discovery is a great example of the high quality
scientific work now being done throughout the
institution.

"We're very proud of Dr. Sarfarazi
and his team," says Dr. Deckers. "The discovery is
a perfect example of the important accomplishments
that can occur as a result of years of work,
careful and thoughtful experimentation, and
singular focus. Great discoveries do not happen
overnight, they occur incrementally, through
discipline and diligence."

Sarfarazi in 1997 also discovered
a major gene that causes primary congenital
glaucoma, a less frequent but still common form of
the disease.

The current research took place
over a number of years and involved a study of 54
families with inherited adult-onset glaucoma. In
investigating the families' genetic material, the
Health Center researchers noticed sequence
alterations - mutations on a gene - were associated
with 16.7 percent of them.

The gene is conserved - nearly the
same - along the evolutionary path from the mouse
to the human. Essential genes, those vital to a
function such as vision, change less than other,
non-essential genes. When the researchers noticed
the sequence alteration in the families with
glaucoma, they knew they had pinpointed their
gene.

The gene is on chromosome 10p14
and was named by the researchers Optineurin, for
"Optic Neuropathy Inducing" protein. They also
called a protein associated

with the gene optineurin. This
protein, says Sarfarazi, is likely to play a
neuro-protective role in normal vision.

Researchers collaborating on the
study included scholars from Yale, Toronto,
Chicago, New York, and two institutions in the
United Kingdom.