Scientists have discovered genetic variants inherited from Neanderthals that could limit motor skills.
Mutations affect about 8% of modern Europeans and affect the activity of important enzymes in the production of skeletal muscle energy.
In a study published July 10th in Journal Nature Communications, researchers analyzed more than 2,700 individuals. This could reduce the chances of anyone carrying the Neanderthal Gene Variant becoming a top athlete without a variant.
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This variant was found in up to 8% of today’s Europeans, 3% of Native Americans, and 2% of South Asians, but was absent from Africans, East Asians and African Americans. “Modern humans who were mixed with Neanderthals about 50,000 years ago, especially in Europe and Western Asia, have around 1-2% of Neanderthal DNA today,” said Dominik Macak, the study’s first author and doctoral student, who is a student at the Max-Planck-Institute of evolutionary anthropology.
Although the Neanderthal variant is not associated with major health issues, the impact on the body’s ability to generate energy during intense exercise can lead to decreased endurance and athleticism in power sports, researchers say.
During exercise, cells acquire energy by breaking down a molecule called adenosine triphosphate (ATP), which is often described as our body’s “battery.” One way the body creates ATP, especially during intense exercise, is to convert two molecules of adenosine diphosphate (ADP) into one molecule of ATP and one adenosine monophosphate (AMP).
The ATP produced by this reaction is used to power intracellular energy processes, and the AMP by-products are removed by an enzyme called AMPD1. Researchers say it is this enzyme that is damaged in people carrying Neanderthal genetic mutants.
To test the effects of this gene mutant, scientists recreated the lab’s Neanderthal version of the AMPD1 enzyme. They found that it was 25% less active than enzymes produced in humans with other variants of the gene. They then found that they were genetically engineered mice to express altered AMPD1, and that the enzyme was up to 80% less active than non-neanthal mutants.
The researchers subsequently analyzed the prevalence of genes between elite and non-athletes. They found that between 4% and 14% of athletes carry this genetic variant, while 9-19% of non-athletes carry the variant. Carrying only one copy of the Neanderthal gene (of the two copies inherited from parents) gave a 50% lower chance of achieving elite athletic status, the data suggests.
Those who carry Neanderthal genes can struggle with more extreme exercise, as enzyme disorders allow the amplifier to accumulate in the muscles, making it difficult to produce ATP at the speed required by the cells. However, having a gene variant of Neanderthal is unlikely to affect the daily activities of most people whose energy is obtained by other means. Researchers say that during a durable sport or muscle strength requires muscle strength, muscle strength requires muscle strength.
But how did this variant have an impact on the Neanderthals themselves? “It is very unlikely that this single genetic variant had a role in the extinction of Neanderthals,” Macac said. “We found it in both early and later Neanderthals, suggesting that it has been stable for thousands of years. Furthermore, some modern humans today often carry mutations that completely destroy the AMPD1 protein without major health issues.
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