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0:00 - How Mutations arise
1:07 - No need to Sleep
2:34 - "Unbreakable" Bones
4:02 - Lactose Tolerance
5:43 - Malaria Resistance
7:29 - Super Sprinters
Mutations occur in humans all the time. Some mutations (which happen in egg or sperm cells) can be passed down to future generations.Most of these mutations are harmful and cause genetic diseases, but some can give us superhero like abilities.
Incredible sleeping schedule: People with mutations in DEC2 often only need 4-5 hours of sleep. DEC2 is also often called the Thatcher gene after Margaret Thatcher. This gene is involved in natural biological clocks which make us feel awake during the day and sleepy at night. If we look at the function of DEC2 we see that it produces a protein which blocks the production of orexin. Mutations in DEC2 decrease its function meaning that people need much less sleep.
Super strong bones: Certain mutations in a gene called LRP5 increase bone density in humans. Affected people say that they have never experienced bone fractures. On a molecular level, certain mutations in LRP5 increase its signalling, thereby telling cells to make bones more dense.
Milk Lovers: Lactose tolerance has evolved roughly 10 000 years ago. While all infants and children are normally able to drink milk and eat dairy products, certain mutations near the gene lactase enable efficient dairy product digestion throughout life. This was especially useful in the recent evolutionary history of humankind since it enabled the intake of additional calories during periods of starvation.
Malaria resistance: Malaria is a fatal disease which is caused by Plasmodium falciparum. Plasmodium enters the bloodstream through mosquito bites and destroys red blood cells afterwards. Certain mutations change the shape and properties of red blood cells, thereby hindering Plasmodium from entering. Prominent mutations (sickle cell allele) might also lead to dramatic diseases such as sickle cell anemia.
Super sprinters: Some people are able to run faster through a genetic variation in the gene ACTN3. This gene is involved in the function of muscle fibers. ACTN3 577R shortens post-exercise muscle damage and injury risk.
For your further research:
He, Ying, et al. "The transcriptional repressor DEC2 regulates sleep length in mammals." Science 325.5942 (2009): 866-870.
Little, Randall D., et al. "A mutation in the LDL receptor–related protein 5 gene results in the autosomal dominant high–bone-mass trait." The American Journal of Human Genetics 70.1 (2002): 11-19.
Pickering, Craig, and John Kiely. "ACTN3: more than just a gene for speed." Frontiers in physiology 8 (2017): 1080.
Piel, Frédéric B., et al. "Global distribution of the sickle cell gene and geographical confirmation of the malaria hypothesis." Nature communications 1.1 (2010): 1-7.
Lomer, M. C. E., Parkes, G. C., & Sanderson, J. D. (2008). lactose intolerance in clinical practice–myths and realities. Alimentary pharmacology & therapeutics, 27(2), 93-103.
Images:
Some pictures were derived from Servier Medical Art by Servier. You can find over 3000 free medical images here: [ Ссылка ]
Music:
Intro:
Light Sting by Kevin MacLeod is licensed under a Creative Commons Attribution licence ([ Ссылка ]...)
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Transitions:
Light Thought var 3 by Kevin MacLeod is licensed under a Creative Commons Attribution licence ([ Ссылка ]...)
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About Clemens Steinek:
CLEMENS STEINEK is a postgraduate student/youtuber (LifeLabLearner) who is currently conducting stem cell research in Germany.
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