Several previous studies have revealed significant association between gene variants and an enhanced risk of Alzheimer’s disease till date, with one of the best known gene variants being APOE3. A group of researchers at the National Institute on Aging (NIA), owned by the National Institutes of Health (NIH), have reportedly come up with a new research, which explains that a gene variant, known as APOE3ch (APO3 Christchurch),holds the ability to resist the very debilitating Alzheimer’s disease.
In the latest research, a particular woman was found to be carrying a genetic variant that is believed to result in the early onset of Alzheimer’s disease. However, she did not exhibit any symptoms of the disease until she entered her 70s –nearly thirty years after the expected age for the disease’s onset. According to the researchers, early-onset Alzheimer’sis found to be quite rare, and in fact, affects only about ten percent of all Alzheimer’s patients. In general, this form of the disease occurs in patients between their 30s and mid-60s.
It was discovered in the study that the woman carried two copies of the APOE3ch gene variant. For the record, the variant was named after Christchurch, which is located in New Zealand, where it was identified for the first time. It was hence observed that the extended family the woman belonged to carried a rare gene mutation called PSEN1 (Presenilin 1) E280A, and moreover had a 99.9 percent risk of developing the early-onset Alzheimer’s condition. The woman thus carried the PSEN1 E280A mutation, besides carrying the two copies of APOE3ch, which were not carried by any other affected family member.
Richard J. Hodes, the Director of NIA, elaborated, “Sometimes close analysis of a single case can lead to discovery that could have broad implications for the field. 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.”