Parkinson’s genetic research consortium in South America

Why are US Parkinson’s organizations funding genetic research in Latin iStock_000009472190_DNAAmerica?  When I asked that question to Seattle researcher Dr. Ignacio Mata, he readily responded: “Seventeen percent of US are Latinos”.  He further explained that as immigration increases, and Latinos intermarry with other ethnic groups, identifying genetic mutations  specific to Hispanic and Amerindian ethnic groups becomes even more important.                             

 Ignacio (“Nacho”) Fernandez  Mata, based out of Seattle’s VA Hospital and affiliated with the University of Washington, is one of the founders of LARGE-PD (“Latin American Research consortium on GEnetics of Parkinson’s Disease”).    See my separate posting how Mata, a Spaniard, chose Parkinson’s to research and ended up in Seattle. 

 In 2005, while he was still a Ph.D student,  Mata was invited to the Latin American Movement Disorder Society (SOLAMA) to provide an update on genetics research impacting  Parkinson’s.  He knew the topic — and he spoke fluent Spanish.   Mata reports on the reaction:  “No one in South America was doing genetics  research…They were all in clinicial research [and asking], ‘How do we get involved?’ “  This meeting was the spark to form a Latin American genetic research consortium, first starting with Argentina, Peru, and Uruguay, and subsequently adding Columbia and Brazil.  ( “I’m learning Portuguese”, Mata grinned.)  (See LARGE-PD‘s website for the names of research institutions.)

Much of Mata’s work in the first few years was working with Latin American researchers to update  research instructure to comply with US funding requirements.  Any research involving human subjects requires an Internal Review Board (for ethics review, disclosures to research subjects, etc.) and a FWA (Federal Wide Assurance).   The research infrastructure often took a while to build because, Mata noted, South American governments have very little funding for science.  As a result, doctors often work two to three jobs to support a middle-class income.  Unlike US doctors, most Latin American doctors don’t have “protected time” to do research, and end up doing research in their “free time” — after the two or three jobs.

The groundwork of the consortium has yielded results.  For example, a recent paper reported on results of screening 1,460 (healthy) controls  and PD patients from Peru, Chile, Uruguay, and Argentina for a specific genetic mutation related to PD.  While most earlier Parkinson’s genetic research had examined populations of European or Asian origin, this research provided more information on the mutation in Hispanic and Amerindian populations.  

 Asking Latin American research participants about their ethnic background points up some of the cultural differences from conducting research in the US.  Mata laughed as he recalled that nearly all the research subjects simply said they were “mestizo” (mixed Indian and European ancestry).  The researchers learned to get more specific data by asking “country of origin” of parents and grandparents.  This self-reporting was supplemented by checking 29 genetic markers which help identify ancestry percentage in four major ethnic groups.  (This is another Seattle tie-in:  Joshua Akey and his population geneticist team at UW developed this test.)

Future research projects for the consortium include genetic research on Latin American families with Parkinson’s.  As a supporting activity for this research, the consortium plans to collect 70 pure Amerindian genetic samples in South America and sequence the whole genome.   Genetic mutations tend to follow ethnic groupings, but there is very little research on Amerindian populations.   This research will help identify what are common gene mutations, and which ones are pathogenetic (that is, which ones cause disease — mutations aren’t necessarily a bad thing).  As a fascinating side project,  population geneticists hope to compare genomes of South American native populations with North American native populations to theorize  about New World migration paths.

About Laura Kennedy Gould

Author of "The Magic Trick -- Life with Parkinson's
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