An Alzheimer’s-Proof Brain: Ground-Breaking Case Provides Clues to Treatment and Prevention of Dementia
The woman's brain, according to the experts, may hold crucial clues for treating dementia. The woman appears to have been protected by the APOE3 Christchurch mutation. Aliria Rosa Piedrahita de Villegas should have had Alzheimer's disease in her 40s and died from it in her 60s due to a rare genetic abnormality. Since she remained free of dementia into her 70s, her brain is now supplying crucial information on the pathophysiology of dementia and potential treatments for Alzheimer's disease. According to initial study from Massachusetts General Hospital (MGH) and other institutions in 2019, the woman, from Medellin, Colombia, was a member of an extended family with a mutation in the PSEN1 gene. One copy of the gene is all that is required for illness to manifest due to the autosomal dominant nature of the PSEN1 E280A mutation. When carriers of the mutation typically show symptoms of the disease in their 40s or 50s and succumb to it soon after, this woman did not begin to show...