Possible Alzheimer's disease marker discovered in rare genotype

January 16, 2009

Researchers at Banner Health's Sun Health Research Institute have uncovered evidence that Alzheimer's disease (AD) may be clinically confirmed in patients with apolipoprotein E2 homozygote. The results of their study are published in the January 2009 issue of the Journal of Alzheimer's Disease.

Apolipoprotein E2 homozygote has been associated with a protective effect against AD and contributes to delaying the onset of symptoms. However previously, no significant data had pointed to clinically confirmed AD in persons with apolipoprotein E2 homozygote. The reverse is true of apolipoprotein E4. Previous studies have confirmed that apolipoprotein E4 is a predictive risk factor for AD and indicates an increased genetic risk of AD.

Clinical confirmation of the apolipoprotein E2 homozygote Alzheimer's disease finding in this study was confirmed by MRI, PET and neuropsychological evaluation and testing. AD pathology is yet to be determined and will occur at post mortem.

"Clinical diagnosis of possible AD has now become extremely accurate and is especially helpful to physicians looking for the best outcomes in treating patients," says Marwan Sabbagh, MD, Sun Health Research Institute's chief medical/scientific officer and lead investigator of the study.

"This study may hold many clues to the nature of how Alzheimer's genetics work. Although clinically rare, the information gleaned in this study allows us to ask new questions and possibly answer others," says Sabbagh.

IOS Press

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	Human Apolipoprotein Mutants, Vol. 2:From Gene Structure to Phenotypic Expression (Ettore Majorana International Science Series) by Cesare Sirtori (Author)
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