Newly identified genetic variant protects against Alzheimer’s

Sunday, May 21, 2023 - 14:32 in Biology & Nature

A new genetic variant that protects against Alzheimer’s disease has been identified by an international team led by Harvard Medical School investigators at Massachusetts General Hospital and Massachusetts Eye and Ear. Their work, published May 11 in Nature Medicine, details the case of a patient with a genetic predisposition for developing early-onset Alzheimer’s disease. Despite the elevated risk for early onset, the patient remained cognitively intact until his late 60s. The newly identified variant occurs in a different gene than the genetic variant from another individual in the same family, whose case was reported in 2019. But the new variant points to a common disease pathway. Insights from the team’s findings also pinpoint a region of the brain that may provide an optimal treatment target in the future. “The genetic variant we have identified points to a pathway that can produce extreme resilience and protection against Alzheimer’s disease symptoms,” said co-senior author Joseph Arboleda-Velasquez, associate professor...

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