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A man with a gene that made him more susceptible to Alzheimer’s managed to keep the disease at bay thanks to natural immunity.
The Colombian man was predicted to have dementia in his 40s, but he died at the age of 74 with only moderate signs of the disease.
Scientists said that the man had a rare genetic variation that helped protect him from the debilitating memory condition. He is only the second known case of this.
Reports say that researchers hope their findings could lead to specific areas in the brain where the disease can be stopped or delayed from progression.
The man, a former mechanic, inherited the Paia gene mutation at birth. This is the most common cause of the early onset of Alzheimer’s and is often found among those living in Colombia.
Mild cognitive impairment sets in around age 45 and dementia by age 50. Instead, the man studied by the scientists sustained resilience and retired in his early 60s before dying at 74 in 2019.
The man was first examined by neurologists when he was aged 67. They found he was cognitively normal.
He was only the second patient to resist the powers of the Alzheimer’s gene, a team of scientists in the journal Nature Medicine said.
Researchers looked through his genome to find a different mutation that might have helped protect him from the disease.
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The team found that the man had a mutation in a gene coding for a protein called reelin, which is associated with brain disorders, including schizophrenia and autism. It may have been this protein that prevented the onset of dementia.
Joseph Arboleda-Velasquez, an associate scientist at Mass Eye and Ear, a Harvard teaching hospital, and one of the leaders of the study, told the Washington Post: “I think it’s important that we listen to the patients. And I think what the patients are telling us is, there is a pathway for protection.”
“The genetic variant we have identified points to a pathway that can produce extreme resilience and protection against Alzheimer’s disease symptoms.
“These are the kinds of insights we cannot gain without patients. They are showing us what’s important when it comes to protection and challenging many of the field’s assumptions about Alzheimer’s disease and its progression.”
In 2019, researchers discovered a woman, Aliria Rosa Piedrahita de Villegas, who avoided dementia until her 70s.
She was found to have a different genetic mutation known as Christchurch which kept Alzheimer’s at bay.
The development comes as scientists at the Massachusetts Institute of Technology (MIT) reported a new way to reverse Alzheimer’s by using a string of amino acids to interfere with an enzyme in mice that is typically overactive in the brains of people with the disease.
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