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Beyond Alzheimer’s: the "Paisa Mutation"

Grupo de Neurociencias, University of Antioquia, focuses on conducting scientific and social work with families affected by Alzheimer’s disease in Antioquia (Colombia).

Rats' brain used to test Alzheimer's treatment 

In the eighties, physician Francisco Lopera and nurse Lucía Madrigal, discovered one of the most disturbing phenomena in the history of Colombian medicine. This phenomenon was associated with a type of generalized dementia in the region of Antioquia, Colombia. Since then, 25 families have been found to suffer from hereditary Alzheimer’s disease.

In 1980, they found a family history of dementia in the town of Belmira, northern Antioquia. In 1985, they found another family affected by dementia in the town of Yarumal. In 1988, they met a 40-year-old man who suffered from early-onset Alzheimer’s. This encouraged them to conduct a genealogical survey on the region.

By 1992, they had identified enough patients to start conducting trials and call for research staff and institutions to join the project. Harvard University and professor Kenneth Kosik (a physician at the Diabetes Division of the University of Texas Health Science Center) joined the project by giving financial and academic support. Health, psychology and nursing professionals, as well as undergraduate students from across the country also joined Dr. Lopera’s project and formed Grupo de Neurociencias de Antioquia.

Grupo de Neurociencias found that dementia found in patients was associated with Alzheimer's disease, which is caused by mutation of chromosome 14 at codon 280 in the presenilin-1 gene. This type of early-onset Alzheimer’s affects the largest group of people in a single region around the world. This is known as the “Paisa Mutation”* since the term “paisa” refers to people born in the region of Antioquia, which is the place with the highest number of patients affected by the disease (around 5,000 cases of Alzheimer’s have been detected in the region).

While no cure for Alzheimer's disease has been discovered as of yet, nurse Madrigal set out to create psychoeducational groups that are responsible for conducting social work activities. These groups meet with the affected families in order to provide them with patient care training and teach them how to stimulate patient’s memory and cognitive functions so that patients can count on having permanent care.

Grupo de Neurociencias not only receives Alzheimer’s patients but also healthy volunteers who wish to participate in research projects. Volunteers are subjected to neuropsychological evaluation in order to assess cognitive disorders and identify degenerative agents. In addition, the group counts on the support of Neurobanco, an institution that promotes Alzheimer's studies through donations of both healthy and affected brains.

"However, getting into patient's private life is not an easy thing to do as they have learned to live with the disease. Some say that such a disease is the result of a spell or a curse. Our intervention means breaking with the traditions and make way for science", claims Lucía Madrigal.

Harvard University and University of Antioquia joined Grupo de Neurociencias in order to continue providing support for Alzheimer’s patients and their families. This partnership resulted in the creation of “Fundación Héroes”, a non-profit organization intended to continue with Alzheimer's research.

Grupo de Neurociencias is planning to conduct clinical trials with drugs that have already been tested in rats and mice. Grupo de Neurociencias seeks to develop preventive treatments to stop and reverse brain degeneration associated with Alzheimer's and other diseases such as Parkinson's, Huntington's, Creutzfeldt-Jakob disease, Attention Deficit Disorder in children, frontotemporal dementia and sleep disorders.

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