A variation in genetics for an individual at high-risk for Alzheimer development has defied the odds for being dementia-free way beyond anticipated. The individual was a woman who carried a gene mutation prone to the development of early-onset Alzheimer but has not developed the symptoms until 30 years after the expected age of onset. Such observation led researchers on a study funded by the National Institute on Aging (NIA) that highly suggests how a gene variant could be the key to new target therapeutic.
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"Sometimes close analysis of a single case can lead to discovery that could have broad implications for the field," said NIA Director Richard J. Hodes, M.D. "We are encouraged that as part of our wide array of studies, this research in the unique genetic makeup of an exceptional individual can reveal helpful information."
In the study, researchers believe that the the woman who carried the gene mutation may have been protected from early Alzheimer symptoms because she also carried two copies of the APOE3 Christchurch (APOE3ch) gene variant. The variant was named after Christchurch, New Zealand were it was first identified.
Early-onset Alzheimer disease is heavily influenced by genetic factors and affects less than 10% of all people who have Alzheimer. The symptoms on average appear between 30 to 60 years of age. Experiments demonstrated in the study sought to address how the APOE3ch variant may reduce the brains ability from forming plaques—a hallmark of the disease.
Findings were published in the paper, “Resistance to autosomal dominant Alzheimer’s disease in an APOE3 Christchurch homozygote: a case report” and shows how APOE3ch variant holds the potential to be a new way of treating or preventing Alzheimer disease.
Source: National Institute on Aging