There is an Alzheimer’s disease family in Colombia. Many family members are destined to develop early-onset dementia at the age of 40 to 50 due to mutations in the PSEN1 gene. In recent years, scientists have discovered that a small number of family members do not suffer from early-onset dementia despite mutations in the PSEN1 gene. Recently, scientists at Washington University School of Medicine confirmed in mouse experiments that mutations in another gene, APOE, can help Slows brain degeneration and avoids the threat of early onset dementia.
In 2019, a study found that a woman with a mutation in the PSEN1 gene also has a special mutation in the APOE gene (another gene related to Alzheimer’s disease) (APOE R153S, Christchurch mutation), which may prevent her from early-onset dementia. Mental illness. But she is the only one in the world who has this special combination of gene mutations, and there is not enough data to prove that this APOE mutation is the main reason for “protecting” her from dementia.
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To prove this, scientists at the University of Washington School of Medicine used genetic modification to allow experimental mice prone to dementia to express the above-mentioned special APOE gene. They found that the microglia cells in the mice’s brains accelerated the removal of abnormally accumulated proteins in the brain. deposition, resulting in a significant reduction in lesions, indicating that this woman has a high probability of maintaining health due to the APOE mutation. The results were published in the authoritative biomedical journal “Cell” in December 2023.
The onset of Alzheimer’s disease lasts about 30 years. In the first 20 years, amyloid protein accumulates abnormally in the brain, but there are no obvious symptoms. When the accumulation of amyloid protein reaches a critical point, it will enter the second stage, involving multiple related destruction processes: the protein called “tau” begins to form abnormal tangles and spread; the brain metabolism slows down and begins to shrink; the brain begins to lose weight. Intellectual symptoms. Scientists have discovered that APOE mutations improve the ability of mouse brains to clear abnormally accumulated Tao proteins and slow down the progression of dementia.
(First image source: shutterstock)
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2024-01-02 08:09:53
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