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For Marta’s family, Alzheimer’s disease doesn’t seem to be an option. Not even 50 years old, Marta was diagnosed with hereditary Early-Onset Alzheimer’s, a form of dementia that may affect up to five percent of persons worldwide. This also means that not just her but her entire extended family might be fated to get the disease, too.
Though she can still move around, Marta needs constant care from her husband, Jose, who is devastated that the woman who used to have so much energy to spare is now on a decline. Yet there is an odd source of hope even in Marta’s condition: It’s in her genes.
Dr. Francisco Lopera, director of the neuroscience group at the University of Antioquia in Medellin, has been studying Marta’s extended family for over 30 years. The family carries a “rare genetic mutation that guarantees they’ll get Early-Onset Alzheimer’s,” with symptoms starting in their 40s. Dr. Lopera became close to many of the family members through neurological examination, and his team has gathered the DNA of over 3,330 family members, including 75 brains of family members who died due to Early-Onset Alzheimer’s.
The Banner Alzheimer’s Institute in Phoenix, AZ, has been studying the beta-amyloid plaque, a protein build-up thought to be a main cause of Alzheimer’s, and most often detected after the patient has died. Now with the information being gathered from the Medellin family, researchers and scientists hope to find a breakthrough in serving, treating, and even preventing Alzheimer’s.
With a fifty-percent chance that she’ll carry the mutation, Marta’s daughter Natasha willingly gave doctors her DNA sample, but says she doesn’t want to know her diagnosis just yet. “I’ll end up thinking about the future before I have to,” she says. “I prefer they do not tell me.”
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