The Fortune Teller

The family in Colombia that has the e280 mutation on the presenilin 1 gene is known worldwide. They have lived with this condition for 500 years—the cause traceable back to Spain in the 1500’s. It is possible that it came from a Conquistador who forced this mutation upon an indigenous person. I went to Colombia and met Francisco Lopera, who found the family, and ran a research study. It was a heroic effort, and although the drug that came out of this study didn’t work, there has been a development which could change the world. 

Normally, onset of this disease is by age 40. A woman, named Aliria, had the gene, but didn’t show symptoms at 40, not at 50, not at 60. They saw that her brain was awash in amyloid proteins, but there was very little actual neurodegeneration. The tangles caused by tau didn’t spread. The reason? There was another mutation, the Christchurch variation which appeared to provide protection. In the magical story 100 years of Solitude, Gabriel Marcia Márquez writes about this kind of ‘sickness’ in the imaginary village of Macondo, which is not unlike the villages outside of Medellin, where the the family who have this mutation live, in real life. From the same family, with a rare mutation, yet another rare mutation that can correct the damage caused by the first? This is more than a coincidence. Francisco Lopera says we must ‘Listen to, Learn from and imitate nature’. This family might provide the key to preventing neurodegeneration for mankind.