Because of the rare genetic mutation, Alaria Rosa Piedrait de Villegas had to develop Alzheimer's disease at the age of 40 and she had to die at the age of 60, but she lived much longer than she had. A group of scientists wanted to understand how it had happened and began research. They found important clues in her brain about the pathology of dementia and possible methods of treating the disease.
For the first time, researchers at the Massachusetts Hospital and other institutions described a woman from Medellín in Colombia as a member of a large family with mutation in the PSEN1 gene in 2019, reports The Harvard Gazette. Since the mutation PSEN1 E280A is autosomic, the disease could only cause one copy of the gene.
However, this woman did not have any symptoms of Alzheimer's disease until she was 70 years old, but she died in 2020 at the age of 77 from metastatic melanoma, and according to a study, Alaria Rosa Piedraita de Villegas was carrying both copies of the APOE3 Christian mutation.
According to scientists, a woman did have pathological signs of Alzheimer's disease in her brain, but not in areas of the brain where dementia is usually found, and researchers also found in her brain a clear picture of anomalous aggregation or accumulation of a tau protein that changes with Alzheimer's and other neurological disorders.
For example, scientists have observed the atypical accumulation of protein in vivo and the unusual postmortem regional distribution, which is characterized by "brain in the frontal cortex and expressed pathology in the occipital cortex", written by scientists.The frontal cortex and hippocampus, which are less affected by taou pathology than the occipital cortex, contained positive neurons associated with orthane receptor B, homeostatic astrocytes and higher expression of apoprotein E.
The occipital cortex, the only one in which cerebral amyloid angiopathy was detected, was characterized by a chronic inflammatory microglyc profile and a lower expression of apopoprotein E.
So scientists have come to the conclusion that APOE3 Christchurch can influence the distribution of Tau pathology and modify the age at which the disease begins, as well as its severity, progressation and clinical image.