Autosomal DominantNothing like going through your RSS feeds and finding out that Portugal is to blame for a specific genetic mutation that leads to breast cancer.

Well, knowing that Portugal was a strong nation as regards to world exploration many centuries ago, and more recently with the heavy emigration all over the globe, I would not be surprised that we could be spreading such a mutation.

While we’re talking about Portuguese genes, let me introduce you to the genetic disease that is endemic in my home town, Póvoa de Varzim. It’s called Familial amyloid polyneuropathy (FAP).

Falling back on Wikipedia’s short epidemiology description:

This disease is endemic in Portuguese locations Póvoa de Varzim and Vila do Conde (Caxinas), with more than 1000 affected people, coming from about 500 families, where 70% of the people develop the illness. It was brought by Vikings from Scandinavia during the Middle Age.

This disease is also referred to as the “little feet disease”, which I would assume is a very loose translation of the Portuguese name for it: “Doença dos pézinhos”. Although I find that when it has anything to do with feet, it’s actually called Paramyloidosis. But I’ll have to get back to you on that one.

Here are a few papers regarding FAP:

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