Archive for April, 2011

According to an article published in Translational Neuroscience, a study done at the Mount Sinai School of Medicine found that patients with Alzheimer’s disease (AD) have lower glucose utilization in the brain than those with normal cognitive function. The decreased levels could possibly be detected 20 years prior to the first symptoms of AD. With this knowledge comes the possibility of developing new therapies of preventing the start of Alzheimer’s.

In the article reported at (, the study used mice modified to develop Alzheimer’s disease. The research team found that when β-amyloid, an abnormal protein linked to Alzheimer’s disease, starts to become detectable in the brain in its soluble toxic form, the mitochondria, or “power plants” of the cell where glucose is converted into energy, became impaired. Within the equivalent of about 20 human years, mice with decreased energy metabolism developed signs of Alzheimer’s disease such as cognitive defects and impairment of the synaptic terminal, the area of brain cells important in memory formation.

“This evidence in mice validates that the diagnosis of probable Alzheimer’s disease may be the end result of impairment in brain cell energy production,” said the study’s lead author, Giulio M. Pasinetti, MD, PhD, The Saunder Family Professor in Neurology, and Professor of Psychiatry, Geriatrics, and Adult Development at Mount Sinai School of Medicine. “Identifying that mitochondrial impairment is evident years earlier than cognitive defects is a major breakthrough.”

“This new evidence could revolutionize the way we design interventions,” said Merina T. Varghese, MD, co-author of the study and Postdoctoral Fellow in Neurology at Mount Sinai School of Medicine. “This study sets the stage for the development of potential novel preventions or therapies to apply in humans, even when they have normal cognitive function, to prevent the eventual onset of Alzheimer’s disease.”

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Genes Linked to Alzheimer’s Disease

The Miami Herald reported on Sunday that research institutions, including the University of Miami  have identified four genes implicated in causing Alzheimer’s disease (AD). There may be up to 100 genes linked to AD, but only a half dozen or so of them are known at this time. This is the biggest such study to date and marks a monumental breakthrough that could lead to identifying almost all of the suspect genes in three to five years, according to Dr. Margaret Pericak-Vance, director of the John P. Hussman Institute for Human Genomics and who led the analysis of the genes.

Pericak-Vance was instrumental in finding the first genetic evidence for Alzheimer’s in the 1990s. She discovered another gene last year and now is in on the discovery of four more. Although it used to be slow, with new technology it should speed up the search.

The University of Miami has a  $1-million-plus “Illumina Platform,” which uses computer chips to compare, contrast and analyze genetic-factor samples from thousands of test subjects. Such advanced equipment made it possible to process evidence from 11,000 people with Alzheimer’s and a nearly equal number of those without it.

The new methods also are enabling an even larger gene study now starting by UM’s new International Genomics of Alzheimer’s Project, along with other U.S. and French researchers. According to Pericak-Vance, one major value of identifying more genes implicated in Alzheimer’s is that it will help pharmaceutical companies create “designer drugs” aimed specifically at the faulty genes. It also will help with earlier predictions of who is at risk, so they can make lifestyle changes to try to slow its progress,

The current study results appear in this month’s issue of Nature Genetics. It’s a collaboration of investigators from 44 universities and research institutions led by Gerard Schellenberg at University of Pennsylvania School of Medicine, Lindsay Farrer of the Boston University School of Medicine and UM’s Pericak-Vance.