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Single Gene Mutation Can Make Humans Active Runner

Researchers at University of San Diego School of Medicine reported to have found the gene, CMA that is responsible for making humans among the best long-distance runners in the animal kingdom.

A team of researchers studied engineered mice, without the gene CMAH, which is responsible for maintaining stamina in humans during long distance running. Their findings were published in the journal Proceedings of the Royal Society B on September 12, 2018.

Scientists claim that the mutation of the gene CMAH might have taken place during ancient period of time when humans were transitioning from forest dwell to live in arid regions. The mutation was necessary to cope with the surroundings, allowing them to hunt in the heat and made them capable to run long distances to catch their prey.

The first genetic difference between humans and chimpanzees was discovered over twenty years ago. The researchers observed the impact of the same mutations in laboratory mouse on fertility. They tried to find out the genetic difference that made to the origin of gene Homo, which is responsible for modern Homo sapiens and extinct species such as Homo habilis and Homo erectus.

“Since the mice were also more prone to muscle dystrophy, I had a hunch that there was a connection to the increased long distance running and endurance of Homo,” said Ajit Varki, MD, Professor of Medicine and Cellular and Molecular Medicine at UC San Diego School of Medicine and co-director of the UC San Diego/Salk Center for Academic Research and Training in Anthropogeny. But they lacked the expertise to organize this kind of experiment.

Jon Okerblom, a graduate student developed a mouse running wheels and a mouse treadmill and evaluated the running capacity of mice without CMAH gene. Another researcher Ellen Breen, Ph.D., a research scientist in the division of physiology, part of the Department of Medicine in the UC San Diego School of Medicine, observed that the mice were resistance to fatigue, showed high mitochondrial respiration rate and hind-limb muscle, with more capillaries to increase blood and oxygen supply.

After repeated observation the researchers concluded that lack of single gene resulted in altering human physiology.