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Updated on 12/29/2018 – 09:02
BEIJING, December 28 (Xinhua) – A team of Chinese researchers has identified gene variants that play an important role in the development of Alzheimer's disease in Han, the largest ethnic group in China.
This study was recently published in National Science Review, an English-language journal affiliated with the Chinese Academy of Sciences (ACCh).
Alzheimer's disease is a progressive and irreversible change in the brain that slowly destroys memory, cognitive abilities, and even the ability to perform simple tasks. This disease affects around 48 million people worldwide, a figure that is expected to increase due to aging population. There is no cure for the disease.
Disease appearance and development are conditioned by genetic and environmental factors, and are inherited in up to 79 percent of cases.
Previous studies have found genes involved in the initial appearance of the Alzheimer's family, which were diagnosed before age 65 and only accounted for five percent of cases. Scientists believe that there are other genes involved that have not been found.
The latest genome association study has identified several Alzheimer's genes in European populations, but most cannot be validated in the Chinese population.
The genetic sequence of 107 Alzheimer's patients diagnosed before 55 years or with a family history allows researchers from the Kunming Institute of Zoology, to rely on ACCh, to find a rare variant, identified as rs3792646, in the C7 gene. Furthermore, they validated the relationship of this variant with disease in 368 cases from east and southwest China.
In addition, experts used data from brain images showing that patients with this risk variant had lower volumes of the right hippocampus, a very important part of the brain, and worse memory in early adulthood than healthy people. . These findings indicate that the variant can affect brain structure and function several decades before the disease manifests itself.
Subsequent studies have shown that excessive variant expression can inhibit cell viability, immune activation and neuronal activity.
This variant may be specifically Chinese, the researchers concluded after analyzing genome sequencing data from 812 European patients.