Tagged: Drug Trials
At the age of 82, Laura Cuartas is watching her four children deteriorate in front of her eyes. Starting around the age of 45, they developed what she describes as “the most terrifying illness of the world”, Alzheimer’s disease (AD). This early onset of the disease is due to a genetic mutation and it progresses rapidly. Within a few years after symptoms arise, around the age of 45, almost all sensation and function is gone. At age 61, Cuarta’s daughter Maria Elsy, is mute and fed by a nose tube. Her son, Dario, is 55 and babbles incoherently. Laura Cuarta is not the only parent who must take care of her children as they fall victim to this disease. In Antioquia, Colombia, she is a part of the largest known extended family to have this familial Alzheimer’s disease. Of the 5,000 members, about a third of them have the presenilin-1 dominant genetic mutation, guaranteeing they will get the disease.
Familial Alzheimer’s only accounts for about 10% of cases of AD. Most cases come from a genetic mutation at presenilin-1, presenilin-2 or the APP gene. Mutations to these genes almost guarantee that an individual will get the disease. For many years, this extended family’s strain of the disease was thought to be isolated, giving us no information about the Alzheimer’s most of us are familiar with- Sporadic Alzheimer’s Disease. This form has an onset of 65 years old. Other than age and family history, there has been no solid risk factor to explain why more than five million American’s are suffering. The APO4 gene has found to be a risk gene, meaning that mutations to this will increase your chances of developing AD, but the disease is not guaranteed. While Sporadic and Familial Alzheimer’s may have different causes, they both result in the same brain changes and symptoms. Plaques and tangles occur in the brain, along with a reduction of synaptic density and neuronal loss.