Ten thousand steps and more. Studying the genome of athletes with exceptional abilities in order to identify new therapeutic targets for muscular or respiratory diseases, this is the project on which the team of Jocelyn Laporte, Inserm research director at the Institute, has been working for a year. Genetics and Molecular and Cellular Biology (IGBMC) of Strasbourg. On a daily basis, these researchers are interested in rare and severe neuromuscular diseases due to mutations, and in particular myopathies, which are characterized by muscle weakness and atrophy, and respiratory failure secondary to muscle damage.
In this research program –mentioned in Savoirs, the information magazine of the University of Strasbourgtheir gait is somewhat reversed. “By sequencing the entire genome of high-level athletes, we hope to discover genetic variants that have a strong impact on muscular or respiratory capacities.explains Jocelyn Laporte. This could open up new avenues for treatments, which we will test first on cell models, then on rodents. »
For this long-term task, the Strasbourg team has put together a first cohort of athletes with exceptional breathing qualities: thirty international-level freedivers. Eleven of the 16 world record holders in this extreme sport (eight categories for men and as many for women) take part. Their genomes, taken from saliva, are currently being analyzed and will be compared with those of a control population. Jocelyn Laporte and his colleagues also plan to study the DNA of a cohort of endurance athletes: cross-country skiers, cyclists… The researchers are also in contact with sports federations to recruit what they call “cases”. families”, i.e. athletes of international level over several generations.
Double-edged mutations
Although imperfectly elucidated, the genetic basis of physical performance has become obvious. In a few decades, some 200 polymorphisms (DNA variations) associated with physical qualities, including a hundred linked to endurance, have been described. Research has accelerated with new sequencing tools, making it possible to carry out complete genome analyzes at low cost and quickly.
“So far, researchers have mainly demonstrated correlations between genetic variants and performance, but very little with a strong or even causal effect”, says Jocelyn Laporte. Among the most cited genes, alpha actinin 3 (ACTN3), which codes for a protein involved in the contraction of fast muscle fibers. Different variants are found in endurance athletes and sprinters.
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