HomePOPULARColombian Family's Genetic Variant Offers New Hope in Alzheimer's Research

Colombian Family’s Genetic Variant Offers New Hope in Alzheimer’s Research

A Colombian woman with a rare genetic resistance to Alzheimer’s disease may have more company than scientists thought. Family members with the Christchurch variant of apolipoprotein E (APOE), who have only one copy of a specific gene, appear to be protected from genetically determined early-onset dementia, according to researchers.

Aliria Rosa Piedrahita de Villegas was born to a family in Colombia, where Alzheimer’s is the most common place in the world.

Among the approximately 6,000 blood relatives, more than 1,000 have the genetic variant E280 A, which predisposes them to the early development of dementia, or what Colombians call “La Bobera” (“the stupidity”). A decline in educational attainment can begin at age 44, but most often begins at age 47.

Like everyone in her family, Aliria is a double carrier of a genetic curse, but as she gets older she describes her brain as “gold”. It wasn’t until he was 70 that he began to show signs of cognitive decline.

A year before his death, scientists announced that they would unravel his mystery with the consent and participation of him and his family. Aliria is a carrier of a rare genetic predisposition that includes two copies of the APOE3 Christchurch variant, which delays the development of Alzheimer’s disease.

In 2023, another Aliria relative found two copies of the same variant. He also defied the odds and didn’t develop Alzheimer’s until his late 60s.

“Our initial research suggested that protection is possible, and it is an important concept. But if a person needs two copies of a rare genetic variant, it still happens,” explained Joseph Arboleda-Velasquez, a neuroscientist at Brigham General Hospital. for the collective eye and ear

In previous studies, one copy of Christchurch’s APOE3 seemed to be insufficient to protect against educational attrition. But that can’t be true.

A new study compared 27 family members with a genetic predisposition to Alzheimer’s disease against 1,050 family members with only the APOE3 Christchurch variant, but not the gene. On average, people with a single copy of the variant develop dementia after 5 years and dementia after 4 years.

This is still younger than Aliria, but it shows that even a single copy of APOE3 Christchurch can have a protective effect.

“Our new study is important because this target is not only protective, but increases our confidence in drug use,” said Arboleda-Velasquez. “We think that a therapy inspired by the human immunodeficiency virus may be more effective and safer.”

To study in more detail, brain scans were performed on two people who carried only one copy for Christchurch’s APOE3. Compared to relatives without the variant, their scans showed reduced and persistent metabolic activity despite the presence of amyloid plaques, a hallmark of Alzheimer’s disease.

In addition, the post-mortem examination of four people who died with genetic predisposition showed blood vessels with signs of brain damage.

This study is limited because it examined this genetic predisposition to Alzheimer’s disease in only one family. However, even in cases of Alzheimer’s that are not genetically predisposed, APOE is a gene that has shown itself to be a potential target in drug research.

For example, a mutation called APOE4 damages the blood vessels in our brain, making it easier for toxins to build up. People with two copies of APOE4 are believed to develop Alzheimer’s if they live longer.

“As a neuroscientist, it shows the complex relationship between APOE and the mutations that determine Alzheimer’s disease,” said Akakel Quiroz, a clinical neuroscientist at Massachusetts General Hospital. disease, including targeting APOE-related pathways. “

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