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ADHD, Alzheimer’s, and the “Paisa Mutation”

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For generations, the “foolishness” has suddenly struck middle-age members of an extended family in Colombia’s Antioquia region.  It starts with mild forgetfulness but soon reduces its victims to infantile incapacitation.

People here have long attributed La Bobera to a host of superstitions: a mythic priest’s revenge or touching a mysterious tree. Scientists now know it is a genetic mutation, concentrated by the intermarriage that’s not unusual in this rather isolated area. The malady is a type of early-onset Alzheimer’s Disease.

It’s called the “Paisa Mutation” because this clan of 5,000 are called Paisas. They are descended primarily from a group of 16th Century Spanish immigrants. By studying this mutation, researchers hope to learn more about other forms of Alzheimer’s and its treatment. Pam Belluck shares the dramatic details on the disease and its discovery, along with hopes for treatment, in a recent story in The New York Times.

This isn’t the first time genetic discovery has taken place in the Paisa population. In fact, researchers studying this unique group of people have learned much about ADHD from them, too. For example, a genetic link between ADHD and conduct disorder/oppositional defiance disorder was discovered by studying selected Paisa families (multi-generational).

What’s so special about the Paisas?  They are a so-called genetic isolate population. They have mixed very little, genetically speaking, with outside populations for generations.  As the population has increased, the gene pool has become “concentrated.”  Thus, they provide a rare opportunity to tease apart the link between genes and the human traits and diseases the population experiences at greater-than-average rates.

Ethnic Finns are considered a human genetic isolate (To read about the 40 rare hereditary diseases more prevalent in Finland than anywhere else in the world, click here).  So are the  inhabitants of Tristan da Cunha, a remote island in the south  Atlantic Ocean settled by British Marines in the early 1800s; their population is beset by asthma in greater-than-average numbers. The genetic isolate that has long interested ADHD researchers, however, is Colombia’s Paisa people.

If you have a chance to attend a presentation by Max Muenke, M.D. on the genetic links to ADHD, please do so.  (I enjoyed such an opportunity at a CHADD conference several years ago.) Muenke is chief and senior investigator of the Medical Genetics Branch of the National Genome Research Institute; not only is he a very smart guy, he is also an engaging speaker with a knack for explaining these highly complex concepts in layperson’s terms. His team published the research mentioned above (on ADHD and conduct disorder).

More recently, the research team discovered that certain variants in one gene (LPHN3) act as a trigger for ADHD. They did this by first analyzing data from their studies of the Paisa families. Then they validated their findings by replicating the study in samples from other populations, including two in the U.S., indicating that the mutation is not likely to be a statistical curiosity restricted to the Paisas. (Perhaps your family participated in the research.)  You can read a report about the study here.

Is there a link between the “Paisa Mutation” and the higher-than-average prevalence of ADHD among the Paisas?  That has yet to be explored.  Stay tuned.

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  1. The Masked ADDer’s avatar

    Great story, Gina. It’s fascinating to see how human understanding evolves from superstitious interpretations to genetic mutations as the causal factors.

    Reply

  2. Joanna R Mucera’s avatar

    I would be interested in their regular dietary habits.

    Reply

    1. Gina Pera’s avatar

      Excellent query, Joanna. I’d be interested in that, too.

      I’ve long been interested in the effects of local water and soil on the population, especially when they have migrated halfway across the world. Perhaps, by staying in a region for hundreds of years, there are adaptations. And certainly, there are in utero effects that can perpetuate generation after generation. And then to move to an area with very different soil and water (maybe even more toxic levels).

      I hope this is an area where strong cross-disciplinary knowledge is applied. I’m not holding my breath, though. ;-)

      Gina

    2. B.Elliott’s avatar

      I just googled this looking for a link between adhd and alzheimers. My great grand father and great grand mother had this. My son is showing signs of adhd and I’m slowly loosing my memory and have add. So i think it’s completely genetic. Please feel free to contact. Or update on further research.

      Reply

    3. Jean Carnegie’s avatar

      Very interesting article. I have a son with ADHD, but as far as we know there is no Paisa in our background! What else can cause this diagnosis?

      In Australia there is a theory that with the onset of Greek migration, this syndrome has been introduced here. They too have secular populations due to the many islands that make up Greece. I have heard that there is also a connection with “the red hair gene”. Is there any truth in any of these theories?

      Reply

      1. Gina Pera’s avatar

        Hi Jean,

        Thanks for your comment.

        Just to be clear: It’s not that everyone who has ADHD is descended from the Paisas.

        Rather, it is that the original Spanish families (the ancestors of modern-day Paisa) obviously carried genetic traits strong for ADHD inter-married over many generations. In other words, inbreeding reinforced these traits.

        re: Australia. I had not heard that ADHD in the Australian population has been attributed to the Greeks. The theory I have heard is that ADHD might have been high among the convicts and indentured servants who were sent from Great Britain to populate the new country.

      2. David’s avatar

        I’m Paisa 10th of 11 children. ADD+depression. My IQ is higher than average(MD,MSMH) painter and self teaching Indian American flute.
        I’m sure this mutation may be in my family, none of them with addiction issues or severe mental illness; on the other hand most are pretty intelligent and driven to improve their lives. I think our genetics predispose 50%
        of our outcomes, but learning compensation mechanisms can lead to have a normal productive life.

        Reply

        1. Gina Pera’s avatar

          Hi David,

          Thanks for visiting. My understanding is that the Paisa are also known for being very good businesspeople. And of course, when we’re talking about millions of people, generalizations hardly hold true.

          I feel deeply for the minority of Paisa afflicted with this Alzheimer’s-like mutation, and I hope that scientists can soon learn enough to develop a gene therapy to help them.

          Perhaps they will discover some epigenetic factors, such as diet and water supply.

          Gina

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