Rare genetic mutations may prevent Alzheimer's disease

Science and Technology Daily Beijing, November 5 (Reporter Zhang Mengran) A case study published in the British journal Nature Medicine on the 5th found that a rare mutation of the APOE3 gene in a woman's body may help her prevent symptoms related to Alzheimer's disease. This case was found in a study of 1,200 Colombians who were highly susceptible to Alzheimer's disease due to genetic predisposition.

The cause of most Alzheimer's disease is unknown. However, a small percentage of people who carry a specific mutation in the presenilin 1 protein gene are more likely to develop Alzheimer's disease and generally develop cognitive problems and dementia at a particularly young age, usually starting in their 40s.

In this study, a woman had a higher degree of pathological changes in brain amyloid, which is also a major feature of Alzheimer's disease. However, the woman did not develop symptoms associated with the disease. Scientists from the Massachusetts General Hospital, the Schepens Eye Institute of the Massachusetts Eye and Ear Hospital, the Department of Ophthalmology at Harvard Medical School and the Banner Alzheimer's Institute studied her genome and found that in addition to the disease-causing mutation, she also carries a rare mutation in the APOE gene called "Christchurch".

The researchers believe that this mutation may have counteracted the harmful effects of the progerin 1 mutation, resulting in a high degree of amyloid pathological changes in the woman's brain, but she did not suffer from the disease. The woman's cognitive health was maintained into her 70s. After several experiments, the team believes that this mutation may have disrupted APOE's binding to sugars related to Alzheimer's disease, resulting in a protective effect.

The team concluded that this case study brings new insights into the mechanisms involved in the development, treatment and potential prevention of Alzheimer's disease, and provides known candidate genes for the development of interventions that block disease progression.

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The treatment of Alzheimer's disease has become a hot topic of public opinion in recent days due to the launch of new drugs invented in China. However, at present, the combination of various therapies can only delay the disease, not cure it. Perhaps gene therapy will be a radical solution. Although Alzheimer's disease affects a large proportion of the population, the genes that fight it are not spread, which may be because the onset is basically in old age, which is not conducive to the advantage of disease suppressor genes. Manual intervention may allow newly discovered disease-suppressing genes to show their power in more cases.