Dr Lopera first stumbled on the phenomenon in the early 1980s.
“I saw a man of 47 with dementia that was very similar to Alzheimer’s disease. That was curious because he was very young.”
Then Dr Lopera learned that the man’s father, grandfather and several brothers had also suffered from dementia.
“I saw we had three generations affected, and in each generation half of the children were affected. This was hereditary.”
Dr Lopera and a small team from his university scoured the region, despite the risks from drug traffickers and rebels of the Revolutionary Armed Forces of Colombia (Farc).
By the end of the 1980s, he had assembled a family tree stretching back nearly 300 years, big enough to cover the wall of an auditorium.
It took another decade to isolate the cause – a gene thought to trigger early onset of the disease.
If one parent has the gene, there is a 50% chance their child will have it too. Half the Colombian family members carry the gene, called the paisa mutation – “paisa” refers to the people of the region.
This rare mutation in an isolated population has attracted scientists from the Banner Institute in Phoenix, Arizona – a world leader in dementia research.
Publicado via email a partir de Palabras de camino