Aug 11, 2009

UC Irvine discovers new Alzheimer's gene -- TOMM40 increases risk of developing the disease

A UC Irvine study has found that a gene called TOMM40 appears twice as often in people with Alzheimer's disease than in those without Alzheimer's.

Duke University scientists found that patients with TOMM40 developed
Alzheimer's an average of seven years earlier than those without the gene.
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Having the harmful form of TOMM40 significantly increases one's
susceptibility when other risk factors - such as having a gene called
ApoE-4 - are present, the new study reports. People who have ApoE-4 are
three to eight times more likely to develop Alzheimer's.
"The TOMM40 gene influences the ease with which molecules can get in and out of mitochondria, the energy production center and stress mediator of cells. TOMM40 also processes materials that form amyloid plaque, a hallmark of Alzheimer's," said Dr. Steven Potkin, lead author of the study and UCI psychiatry & human behavior professor.
"With aging, the number and function of mitochondria decrease,
accompanied by a parallel increased risk of developing Alzheimer's," he
said. "This study points to the use of mitochondrial-based therapies for
treating the disease."

The study will be published Aug. 7 in the journal PLoS One.

Supporting the UCI discovery is research presented recently at the
International Conference on Alzheimer's Disease in Austria. Duke
University scientists found that patients with TOMM40 developed
Alzheimer's an average of seven years earlier than those without the

In addition to Potkin, who is also the Robert R. Sprague Chair in Brain
Imaging and director of UCI's Brain Imaging Center, UCI scientists Dr.
Fabio Macciardi, Guia Guffanti, Dr. Anita Lakatos, Jessica Turner, Dr.
Frithjof Kruggel and James Fallon worked on this study.

They collaborated with Andrew Saykin of Indiana University, Dr. Michael
Weiner of UC San Francisco and Alzheimer's Disease Neuroimaging
Initiative patients and investigators.

The study was funded by the National Institute of Biomedical Imaging and
Bioengineering, the National Institute on Aging, the National Center for
Research Resources and an anonymous foundation.

About the University of California, Irvine: Founded in 1965, UCI is a
top-ranked university dedicated to research, scholarship and community
service. Led by Chancellor Michael Drake since 2005, UCI is among the
fastest-growing University of California campuses, with more than 27,000
undergraduate and graduate students, 1,100 faculty and 9,200 staff. The
top employer in dynamic Orange County, UCI contributes an annual
economic impact of $4.2 billion. For more UCI news, visit

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Jennifer Fitzenberger

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Bob DeMarco is an Alzheimer's caregiver and editor of the Alzheimer's Reading Room. The Alzheimer's Reading Room is the number one website on the Internet for advice and insight into Alzheimer's disease. Bob taught at the University of Georgia, was an executive at Bear Stearns, the CEO of IP Group, and is a mentor. He has written more than 700 articles with more than 18,000 links on the Internet. Bob resides in Delray Beach, FL.