Neurologist Fuki Hisama is honored for her research on aging syndrome
A Yale researcher studying the makeup of a gene responsible for a rare premature aging disease has received The Paul Beeson Scholar Award.
The American Federation for Aging Research gave the faculty development award to Fuki Hisama, assistant professor of neurology at the School of Medicine. The award provides $450,000 in research funding over three years to outstanding junior physician faculty committed to academic careers in aging-related research, teaching and practice.
The focus of Hisama's research is Werner Syndrome. Persons with this syndrome begin to age rapidly in their late teens and early 20s, developing many of the features associated with aging, such as grey hair, cataracts, cancer, osteoporosis and hardening of the arteries. The disease is named for the German physician Otto Werner, who first identified the syndrome at the turn of the century.
The disease is rare and is thought to affect one person in two million to five million people. Although it is found across the population, natives of Okinawa, Japan, and the island of Sardinia seem to be more at risk, Hisama says. Persons with Werner Syndrome usually die in their 40s of a heart attack or stroke.
The disease is caused by a mutation in a single gene, which was identified in 1996 by a research group that included Hisama, while she was a fellow in the laboratory of Dr. Sherman Weissman of the Department of Genetics at Yale. Hisama hopes her current research on the gene's molecular makeup may yield clues to aging.
"Although we know in most normal people aging is not caused by this mutated gene, we may have better insights into causes of aging at the molecular level by studying the Werner gene," she explains.
At the time Hisama and her colleagues identified the Werner gene it was found to be a new member of a family of genes known as RecQ helicase. The function of this family of genes is to unwind double-stranded DNA. Whenever a cell uses genetic information, or repairs or replicates DNA, helicase is involved in the process.
"This suggested that persons with Werner Syndrome had some problem with DNA metabolism at a very basic level," Hisama says. "Their premature aging may be related in some way to DNA damage and DNA repair."
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