BIOMICs Group analyzes Basque diaspora DNA

The BIOMICs Group, based at the Lucio Lascaray building in the Álava/Araba campus of the University of the Basque Country (UPV/EHU), is specially known for overseeing the SGIker DNA Bank, not only undertaking this task, but also feeding data into the gene research bank and making good use of it for their own lines of research. Led by Doctor Marian Martínez de Pancorbo, BIOMICs has numerous research specialists in diverse areas of genetics (neurodegenerative, cancer, forensic, and so on), and works jointly with Basque hospitals and universities as well as with centres worldwide.

The research activity of BIOMICs frequently has international repercussion such as, for example, the line involving Alzheimer's disease and published in Nature Genetics. "We studied the stage prior to Alzheimer. If we manage to detect genes that can indicate to us running a greater risk, palliative therapies can be tried out", explained Marian M. de Pancorbo. Another line of research – on breast cancer and undertaken by researcher Ms Naiara Bediaga, was published in the prestigious Breast Cancer Research journal: "If one looks at the DNA of a tumour and that of healthy tissue, the sequence of bases is the same. But when one looks inside the tumour, it can be seen that the DNA bases of the tumour also have methyl groups and which modify its DNA". This is the epigenome, and could be the key for the even earlier detection of cancer, and so this line of research is open.

Return to the origins

Cancer, Alzheimer, Parkinson, prionopathy (fatal familiar insomnia), archaeogenetics, and so on. The areas encompassed are very diverse but, curiously, one of the strongest lines of the research in recent times involves a traditional one – a return to the origins of the group: the genetics of human populations and evolution.

Today there are methods for following the lineage of a population and this is what has been proposed with the Basque lineage. Given this, the team focused on the Basque community living on the other side of the Atlantic. "We have these genetically same populations (from the Basque Country) living in other environments. We wanted to see how these influenced the populations, knowing that the genetics is the same. This under normal circumstances cannot be done, for example, if the person who immigrates is Italian, it is known that they are Italian, but from what region of Italy; with what region of Italy do you make a comparison? On the other hand, if it is a Basque who immigrates, you compare this with a concrete and very small region, thanks to their surname", explained Ms M. de Pancorbo. She adds that the usefulness of this study is not limited to knowledge: "We believe that it can contribute a lot to knowing how mixtures of populations are going to be influenced, the different lifestyles… but, above all, from the viewpoint of health and of illness".

Argentina, California, Nevada and Idaho

Making good use of the extensive network of Euskal Etxeak (Basque social centres abroad), the BIOMICs Group obtained samples of saliva from hundreds of persons of Basque origin in Argentina and in the United States (California, Nevada and Idaho). Once the samples are registered at the research centre in the Basque Country capital of Vitoria-Gasteiz, the DNA is extracted from the samples in order to analyse them and store them as "treasure" in the DNA bank. The analyses focus above all on the mitochondrial DNA (inheritance markers transmitted by women) and the Y chromosome (men).

In the case of the United States, the team has the first results. As Ms M. de Pancorbo explains, two groups have been found. The first, those whose Basque ancestors arrived in America and continue to procreate amongst each other: "It is a transfer to America of what we have here". And the second is the group who have crossed or mixed. In this case, a calculation of the percentage of the mixing was undertaken: "The calculation for mitochondrial DNA indicates that there is a component of over 50 % of Basque origin, and that other lineages have intervened later – fundamentally of a Caucasoid nature, and a not very high percentage of Hispanic population. We found practically no mixture with the Negroid population. As regards the Y chromosome, the data are similar".

Even the whalers

Now that they know to what point the genetic heritage of the Basques has been maintained, Ms M. de Pancorbo states that "we are now beginning to carry out studies regarding obesity and we also wish to investigate other, related illnesses". Not only this: they are preparing an expedition to take place within the next two years, to take this study further abroad, concretely to the highest latitudes of North America and to earlier times – when the Basque whalers first appeared. "Here the surnames have not been kept, but the Y chromosome enables us to follow the trail of the Basques, the Y chromosome of the Native American Indians being different. We want to see what percentage there is of certain genes, what percentage of others and how this is correlated with the state of health and illnesses of the Native American peoples who had relations with our population", explained the Director of BIOMICs.

Source: Elhuyar Fundazioa