The world’s most Alzheimer’s city due to a strange genetic mutation

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If Macondo existed, it would be found in the northwest of Colombia in a geographical area known as “paisa”. The key that allows us to place it there is that the author describes in his novel the existence of the “plague of insomnia” and the “disease of oblivion”.

“Paisa” is a socio-anthropological apócope denomination of “countryman” or “companion” that is used to refer to the inhabitants of that region, because they have a typical dialectical intonation.

There is Yarumal, a municipality in the department of Antioquia nestled in the Andes. For centuries, its inhabitants have believed that they are condemned to suffer a curse that makes them forget all their memories, dying not long after the onset of symptoms.

The Yarumal people report that the disease begins with the repeater, followed by the treadmill and the urinal, and ends with the moridera. The truth is that you cannot be more graphic.

Thousands of people – belonging to just twenty-five different families – are condemned to suffer this malicious punishment. Some locals know the disease as the “Piedrahita bobera”, referring to one of the affected families.

Tracing back in time, it has been concluded that it is very possible that the genetic mutation –paisa mutation- comes from a couple of Basque origin that settled in the area in the early eighteenth century.

The paisa curse
The first symptoms of the amnesiac scourge come very soon, when the patient has just entered the quarantine, this is followed by a decrease in mobility and a progressive mental deterioration, which they assume resigned as a “brain softening”.

When the researchers landed in this natural laboratory, they discovered that the patients shared a mutation in a gene that caused them to develop Alzheimer’s disease early.

This degenerative disease, according to data from the World Health Organization (WHO), affects about fifty million people worldwide and, approximately, every three seconds a new case is diagnosed.

Of all these patients, only in one percent of cases is there a genetic cause, located in one of the three genes related to the amyloid protein.

Well, the Yarumal community has the highest prevalence of genetic Alzheimer’s disease in the world. It is estimated that around a fifth of the family population group consisting of more than six thousand people suffer or will suffer in the future.

The fault lies with a letter
Those affected by this terrifying disease have a mutation in the presinilin 1 gene – located on chromosome 14 – which causes a change from glutamic to alanine. This alteration in amino acids generates the appearance of protein waste known as amyloid.

These specific genetic characteristics are responsible for the fact that all the drugs used in the treatment against Alzheimer’s have so far failed.

Returning to the novel by Gabriel García Márquez, we are given the key to the treatment: a drink that the gypsy
Melquiades brings after “returning from death.” What a pity that reality is not as simple as fiction!

Pedro Gargantilla is an internist at the Hospital de El Escorial (Madrid) and the author of several popular books
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