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LOS ANGELES, March 29 (Xinhua) – Researchers have identified for the first time two extremely rare genetic variants linked to Alzheimer's disease (AD), revealed a new study from the Faculty of Medicine of the United States. Boston University.
These variants, one located in the NOTCH3 gene and the other in the TREM2 gene, were observed in individuals with Alzheimer 's disease, but in none of the controls.
The results, published online in the JAMA Network Open, are based on a complete DNA sequence badysis of parts of the genome coding for the genes of more than 5,600 participants with Alzheimer's disease and close to 4,600 elderly people in good health.
According to the researchers, the NOTCH3 variant has not been implicated in Alzheimer's disease in important previous genetic studies. However, other mutations in this gene cause a very rare form of dementia, called CADASIL. The disease begins with severe headaches and strokes in young adults, followed by dementia in midlife.
Other mutations of the TREM2 gene have been badociated with Alzheimer's disease and it has already been shown that people carrying two copies of this particular mutation suffered from a very rare disease called Nasal Disease. Hakola. The disease is characterized by the onset of dementia at midlife and polycystic bone lesions with fractures.
"Our results indicate that different mutations in the same gene or a different number of copies of a given mutation can lead to very distinct forms of dementia," said Lindsay Farrer, head of the Biomedical Genetics Division at Boston University School of Medicine, corresponding author of the study.
"The discovery of Alzheimer's risk badociations with rare genetic variants can lead to new insights into the biological pathways involved in AD and strategies for developing new treatments and biomarkers," said Farrer. .
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