4 beneficial evolutionary mutations that humans are undergoing right now

The genetic mutation that drives evolution is random. But here's a list of some beneficial mutations that are known to exist in human beings

Most random genetic changes caused by evolution are neutral, and some are harmful, but a few turn out to be positive improvements. These beneficial mutations are the raw material that may, in time, be taken up by natural selection and spread through the population. In this post, I'll list some examples of beneficial mutations that are known to exist in human beings.


Beneficial mutation #1: Apolipoprotein AI-Milano

Heart disease is one of the scourges of industrialized countries. It's the legacy of an evolutionary past which programmed us to crave energy-dense fats, once a rare and valuable source of calories, now a source of clogged arteries. But there's evidence that evolution has the potential to deal with it.

All humans have a gene for a protein called Apolipoprotein AI, which is part of the system that transports cholesterol through the bloodstream. Apo-AI is one of the HDLs, already known to be beneficial because they remove cholesterol from artery walls. But a small community in Italy is known to have a mutant version of this protein, named Apolipoprotein AI-Milano, or Apo-AIM for short. Apo-AIM is even more effective than Apo-AI at removing cholesterol from cells and dissolving arterial plaques, and additionally functions as an antioxidant, preventing some of the damage from inflammation that normally occurs in arteriosclerosis. People with the Apo-AIM gene have significantly lower levels of risk than the general population for heart attack and stroke, and pharmaceutical companies are looking into marketing an artificial version of the protein as a cardioprotective drug.

There are also drugs in the pipeline based on a different mutation, in a gene called PCSK9, which has a similar effect. People with this mutation have as much as an 88% lower risk of heart disease.

Beneficial mutation #2: Increased bone density

One of the genes that governs bone density in human beings is called low-density lipoprotein receptor-related protein 5, or LRP5 for short. Mutations which impair the function of LRP5 are known to cause osteoporosis. But a different kind of mutation can amplify its function, causing one of the most unusual human mutations known.

This mutation was first discovered fortuitously, when a young person from a Midwest family was in a serious car crash from which they walked away with no broken bones. X-rays found that they, as well as other members of the same family, had bones significantly stronger and denser than average. (One doctor who's studied the condition said, "None of those people, ranging in age from 3 to 93, had ever had a broken bone.") In fact, they seem resistant not just to injury, but to normal age-related skeletal degeneration. Some of them have benign bony growths on the roof of their mouths, but other than that, the condition has no side effects - although, as the article notes dryly, it does make it more difficult to float. As with Apo-AIM, some drug companies are researching how to use this as the basis for a therapy that could help people with osteoporosis and other skeletal diseases.

Beneficial mutation #3: Malaria resistance

The classic example of evolutionary change in humans is the hemoglobin mutation named HbS that makes red blood cells take on a curved, sickle-like shape. With one copy, it confers resistance to malaria, but with two copies, it causes the illness of sickle-cell anemia. This is not about that mutation.

As reported in 2001 (see also), Italian researchers studying the population of the African country of Burkina Faso found a protective effect associated with a different variant of hemoglobin, named HbC. People with just one copy of this gene are 29% less likely to get malaria, while people with two copies enjoy a 93% reduction in risk. And this gene variant causes, at worst, a mild anemia, nowhere near as debilitating as sickle-cell disease.

Beneficial mutation #4: Tetrachromatic vision

Most mammals have poor color vision because they have only two kinds of cones, the retinal cells that discriminate different colors of light. Humans, like other primates, have three kinds, the legacy of a past where good color vision for finding ripe, brightly colored fruit was a survival advantage.

The gene for one kind of cone, which responds most strongly to blue, is found on chromosome 7. The two other kinds, which are sensitive to red and green, are both on the X chromosome. Since men have only one X, a mutation which disables either the red or the green gene will produce red-green colorblindness, while women have a backup copy. This explains why this is almost exclusively a male condition.

But here's a question: What happens if a mutation to the red or the green gene, rather than disabling it, shifts the range of colors to which it responds? (The red and green genes arose in just this way, from duplication and divergence of a single ancestral cone gene.)

To a man, this would make no real difference. He'd still have three color receptors, just a different set than the rest of us. But if this happened to one of a woman's cone genes, she'd have the blue, the red and the green on one X chromosome, and a mutated fourth one on the other... which means she'd have four different color receptors. She would be, like birds and turtles, a natural "tetrachromat", theoretically capable of discriminating shades of color the rest of us can't tell apart. (Does this mean she'd see brand-new colors the rest of us could never experience? That's an open question.)

And we have evidence that just this has happened on rare occasions. In one study of color discrimination, at least one woman showed exactly the results we would expect from a true tetrachromat.

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Image courtesy of iStock

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New fossils suggest human ancestors evolved in Europe, not Africa

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Homo sapiens have been on earth for 200,000 years — give or take a few ten-thousand-year stretches. Much of that time is shrouded in the fog of prehistory. What we do know has been pieced together by deciphering the fossil record through the principles of evolutionary theory. Yet new discoveries contain the potential to refashion that knowledge and lead scientists to new, previously unconsidered conclusions.

A set of 8-million-year-old teeth may have done just that. Researchers recently inspected the upper and lower jaw of an ancient European ape. Their conclusions suggest that humanity's forebearers may have arisen in Europe before migrating to Africa, potentially upending a scientific consensus that has stood since Darwin's day.

Rethinking humanity's origin story

The frontispiece of Thomas Huxley's Evidence as to Man's Place in Nature (1863) sketched by natural history artist Benjamin Waterhouse Hawkins. (Photo: Wikimedia Commons)

As reported in New Scientist, the 8- to 9-million-year-old hominin jaw bones were found at Nikiti, northern Greece, in the '90s. Scientists originally pegged the chompers as belonging to a member of Ouranopithecus, an genus of extinct Eurasian ape.

David Begun, an anthropologist at the University of Toronto, and his team recently reexamined the jaw bones. They argue that the original identification was incorrect. Based on the fossil's hominin-like canines and premolar roots, they identify that the ape belongs to a previously unknown proto-hominin.

The researchers hypothesize that these proto-hominins were the evolutionary ancestors of another European great ape Graecopithecus, which the same team tentatively identified as an early hominin in 2017. Graecopithecus lived in south-east Europe 7.2 million years ago. If the premise is correct, these hominins would have migrated to Africa 7 million years ago, after undergoing much of their evolutionary development in Europe.

Begun points out that south-east Europe was once occupied by the ancestors of animals like the giraffe and rhino, too. "It's widely agreed that this was the found fauna of most of what we see in Africa today," he told New Scientists. "If the antelopes and giraffes could get into Africa 7 million years ago, why not the apes?"

He recently outlined this idea at a conference of the American Association of Physical Anthropologists.

It's worth noting that Begun has made similar hypotheses before. Writing for the Journal of Human Evolution in 2002, Begun and Elmar Heizmann of the Natural history Museum of Stuttgart discussed a great ape fossil found in Germany that they argued could be the ancestor (broadly speaking) of all living great apes and humans.

"Found in Germany 20 years ago, this specimen is about 16.5 million years old, some 1.5 million years older than similar species from East Africa," Begun said in a statement then. "It suggests that the great ape and human lineage first appeared in Eurasia and not Africa."

Migrating out of Africa

In the Descent of Man, Charles Darwin proposed that hominins descended out of Africa. Considering the relatively few fossils available at the time, it is a testament to Darwin's astuteness that his hypothesis remains the leading theory.

Since Darwin's time, we have unearthed many more fossils and discovered new evidence in genetics. As such, our African-origin story has undergone many updates and revisions since 1871. Today, it has splintered into two theories: the "out of Africa" theory and the "multi-regional" theory.

The out of Africa theory suggests that the cradle of all humanity was Africa. Homo sapiens evolved exclusively and recently on that continent. At some point in prehistory, our ancestors migrated from Africa to Eurasia and replaced other subspecies of the genus Homo, such as Neanderthals. This is the dominant theory among scientists, and current evidence seems to support it best — though, say that in some circles and be prepared for a late-night debate that goes well past last call.

The multi-regional theory suggests that humans evolved in parallel across various regions. According to this model, the hominins Homo erectus left Africa to settle across Eurasia and (maybe) Australia. These disparate populations eventually evolved into modern humans thanks to a helping dollop of gene flow.

Of course, there are the broad strokes of very nuanced models, and we're leaving a lot of discussion out. There is, for example, a debate as to whether African Homo erectus fossils should be considered alongside Asian ones or should be labeled as a different subspecies, Homo ergaster.

Proponents of the out-of-Africa model aren't sure whether non-African humans descended from a single migration out of Africa or at least two major waves of migration followed by a lot of interbreeding.

Did we head east or south of Eden?

Not all anthropologists agree with Begun and his team's conclusions. As noted by New Scientist, it is possible that the Nikiti ape is not related to hominins at all. It may have evolved similar features independently, developing teeth to eat similar foods or chew in a similar manner as early hominins.

Ultimately, Nikiti ape alone doesn't offer enough evidence to upend the out of Africa model, which is supported by a more robust fossil record and DNA evidence. But additional evidence may be uncovered to lend further credence to Begun's hypothesis or lead us to yet unconsidered ideas about humanity's evolution.