Real human mutations versus mutations in superheroes

Our friends at Treated.com break down some real-world human gene mutations and compare them to mutations found in popular superheroes. Thank you!

It may come as a surprise, but each of us receive around 60 new mutations from our parents. We all have them, and not just a relatively small number of them either. Scientists have estimated that the 37 trillion cells in our bodies will be subject to trillions of new mutations on a daily basis.

It’s easy to look upon mutations as above all else harmful and threatening, but the majority of them are actually inconsequential. There are a select few that are even extraordinary and of huge benefit; to such a degree, in fact, that they’re comparable to certain comic book superheroes.

We explored the similarities between five human mutations and five superhero counterparts, and spoke to Patrick Short, Co-Founder and CEO at Sano Genetics, along with Treated.com Clinical Lead Dr Daniel Atkinson, about the positive impact that mutations can have on our bodies.

Tetrachromacy

Tetrachromacy is an alteration in a gene that allows people to see colors that others can’t perceive. It is thought that it may allow those affected to see as many as 9 million more colors than the average individual. This is due to tetrachromats having four types of specialized cells in the eye called cones, as opposed to the typical three types of cells. In addition to blue, green and red cones, a fourth cone is particularly sensitive in the yellow-green area of the spectrum.

Having two X chromosomes, in addition to the anomalous gene, is key to tetrachromacy, and therefore it is thought that it only impacts on women. The blue cone is very rarely affected by genetic errors, and is coded by a gene on a different chromosome – chromosome 7. In terms of the X chromosomes, women are able to carry the standard red and green genes on one of the X chromosomes and the anomalous gene on the other, giving them four cones.

Although it is estimated that 12% of women carry the gene, how many women can actually see the myriad extra distinctions in color hasn’t yet been established.[1]

In terms of ascertaining whether a woman has the gene variation or not, the best starting point is if a woman has a father or son with a slight color anomaly (i.e. very mild color blindness). We can confidently anticipate that the milder the son’s (or father’s) color anomaly, the greater the likelihood that the mother (or daughter) can view the world in different colors.

DF-00100 – Tye Sheridan is Scott Summers/Cyclops in X-MEN: APOCALYPSE. Photo Credit: Alan Markfield.

Comparable Superhero: Scott Summers, A.K.A Cyclops (from The X-Men)

Perhaps the closest we get to a tetrachromat in comic books is Scott Summers, also known as Cyclops from the X-Men series. Cyclops, Professor X’s first recruit in the comic books and therefore the first X-Man, was also born with a mutation that had remarkable consequences on his eyes. The mutation gave him the ability to shoot optic blasts from them – blasts powerful enough to level mountains or shatter a half-inch carbon steel plate.

CCR5 and HIV resistance

The CCR5 delta 32 mutation gives those who have inherited it 100 times greater protection against HIV. The mutation disables the CCR5 receptor on white blood cells – the access point for the virus to access the cells – preventing HIV from infiltrating the immune system. People with the mutation are known as homozygotes, and 1% of the European and US population who have inherited the mutated gene from both parents, an essential criteria for enhanced protection.[2]

In March of this year, it transpired that it was likely a second patient was cured of HIV via a bone marrow transplant received from a HIV-resistant donor.

CCR5 is a great example of genetic variation at its most advantageous, significantly increasing our wellbeing. It’s also reflective of the importance of mutations in evolution, in order to facilitate positive change.

“People might think that genetic mutations are worrying, and some of them are – localized mutations on a cellular level can sometimes lead to cancer or other health problems – but we should remember that the whole process of evolution depends on genetic mutations,” says Treated.com Lead Dr Daniel Atkinson.

Going forward, the CCR5 mutation could pave the way for gene therapy and vaccines. It does not guard against all forms of HIV however, as certain strains of the virus, such as CXCR4-tropic, can enter the body through other receptors.

There is a drug called Maraviroc (branded as Selzentry and Celsentri), that mimics the CCR5 mutation by attaching itself to the CCR5 receptor and therefore preventing HIV from doing so, but it needs to be taken every day. Researchers are continuing to work on manufacturing a version that will have greater longevity.

Marvel’s Avengers: Age Of Ultron..Hulk/Bruce Banner (Mark Ruffalo)..Ph: Film Frame..©Marvel 2015

Comparable Superhero: The Incredible Hulk (A.K.A Bruce Banner from The Incredible Hulk)

When nuclear physicist Bruce Banner transforms into the Hulk, he possesses extraordinary healing abilities that provide him with immunity to HIV, as well as all other viruses and diseases on earth.

Issue 388 of the The Incredible Hulk comic book makes light of an incident in which Rick Jones, Banner’s sidekick, is unable to take Banner’s former sidekick, Jim Wilson, to the hospital following Wilson’s exposure to the HIV virus. Jones himself has cut his hands, and is therefore anxious about exposing himself to the virus. The Hulk asserts that he can take Wilson to hospital, as his immune system will protect him from HIV.

Hyperthymesia (or Highly Superior Autobiographical Memory)

Fewer than 100 people have been diagnosed with Hyperthymesia, or Highly Superior Autobiographical Memory (HSAM), which vastly bolsters peoples’ ability to retain and recite memories. A paper by the neuroscience graduate student Aurora LePort and neurobiologist Dr. Craig Stark found that subjects weren’t merely better at recalling memories than the average person, but were far better. When recalling autobiographical data from periods of their lives long past, in terms of memories that could be legitimized, they were accurate as often as 87% of the time.[3]

Brain scans of those with HSAM have revealed structural discrepancies in regions of the brain linked to autobiographical memory production, such as increases in the parahippocampal gyrus. There are also increases in the uncinate fascicle, the bridge between the frontal and temporal cortices that carries information and forms part of episodic memory retention.

LePort and Stark’s study also indicated that most HSAM participants made light of mental systems that they would utilize in the brain to refine their recollective abilities, assembling memories in chronological order or in a categorical fashion (for instance, every April 15 that they could remember from their past). Legitimizing these memories is difficult, however, so it should be noted that using dates is the closest that the study could get to substantiating participants’ experiences.

In a 2016 study, LePort and a group of researchers put the quality and volume of autobiographical memories amongst HSAM participants to the test, comparing their retrieval to control groups. Both camps were identical after one week, but beyond this, the control groups’ recollective abilities dipped dramatically, whereas the HSAM group could continue to recall without any sign whatsoever of a future decline.

Whether the HSAM population will serve as the crux to curing Alzheimer’s and dementia remains unknown, but analysis does at the very least give rise to questions concerning whether we all have access to memories of each day of our lives, but cannot achieve this access due to shortcomings in our retrieval, or perhaps our storage and retention faculties.

GOTHAM: Shane West in the “I Am Bane” episode of GOTHAM airing Thursday, March 21 (8:00-9:00 PM ET/PT) on FOX. ©2019 Fox Broadcasting Co. Cr: FOX

Comparable Superhero (or villain in this case): Bane (from Batman)

One of Batman’s most formidable opponents, the iconic villain Bane possesses a photographic memory that allows him to become an expert in at least eight languages, whilst also making him a pioneer in numerous scientific areas. His powers of recollection are considered to verge on the absolute.

The PCSK9 gene and low cholesterol

A mutation that stops the liver from producing a protein called PCSK9 gives the small number of carriers of the anomalous gene incredibly low cholesterol levels, and subsequently a lower risk of heart disease.

People without PCSK9 have a greater amount of LDL-removal protein, which removes LDL cholesterol and therefore means that there is less of it in the blood. One carrier of the mutation, a woman who had inherited the anomalous gene from both her mother and father, had an LDL reading of just 14, an unprecedented figure in healthy adults, where levels are usually over 100.[4]

This has found further strength in other trials, in which adults with one functional copy of PCSK9 and one mutation (approximately 2% of the study population) possessed 40% lower cholesterol levels than people carrying two functional copies of PCSK9.[5]

The research was then applied to heart disease, to compare those with the inactive mutations to those without them. Participants with an inactive mutation were shown to have a huge reduction in their risk of developing heart disease: between 47 and 88%.[6] What’s more, the extremely low cholesterol levels don’t seem to have any detrimental effects whatsoever on the body.

Comparable superhero: Wonder Woman (from Wonder Woman) 

The subject of blood pressure has found particular strength in the Wonder Woman comic series. Wonder Woman’s creator, Dr William Marston, popularized systolic blood pressure measurements to identify deceit. This research inspired Wonder Woman’s own blood pressure tests in the 1940s comics to help uncover liars and spies. When it seemed that someone was lying, a baseline assessment for comparison purposes had to be made – how that person looked when they were being genuine. This took the form of the Lasso of Truth, which Wonder Woman wields to extract honesty from those put to the test.

Adaptation at high altitude

Tibetans are able to prosper at high altitude as a consequence of a mutation impacting on the body’s red blood cell count. The gene, known as EPAS1, codes for a protein that’s reactive to decreasing oxygen levels, and it’s linked to enhanced athleticism amongst endurance runners.

The mutation, present in 87% of Tibetan people[7], makes symptoms of high altitude, such as sickness, lethargy and headaches, redundant. Red blood cell count tends to escalate amongst Westerners after two or three weeks at high altitude, whereas it remains steady for Tibetans.

There is a reduction in the amount of oxygen in the blood amongst Tibetans in low-oxygen environments, and this puts less pressure on the blood vessels, which in turn puts less strain on the heart.

Research has uncovered that the DNA for the EPAS1 gene can be traced back to a human ancestor from between 30,000 and 50,000 years ago – the Denisovans.[8] It is thanks to this ancestry that those Tibetans who settled on the Tibetan Plateau can survive much more easily. As Dr Atkinson observes:

Some genetic mutations can give certain organisms an advantage over their peers; these are then more likely to survive and reproduce and pass on the mutation meaning that, over time, a species evolves and adapts to its environment.

Comparable Superhero: The Human Torch (from The Fantastic Four)

Like the Tibetans, Jim Hammond, otherwise known as The Human Torch and a member of the Fantastic Four, is able to function better than the average person in environments where there are reduced oxygen levels. He’s able to go into stasis, and suspend his powers of ignition until more oxygen is present.

Are we likely to see more beneficial human mutations emerge in the future?

By its very nature, natural selection in humans will lead to more and more positive mutations developing and coming into play, and we’re only going to get better and better at identifying them with increased access to genome sequencing (analysis of our DNA).

“There are so many amazing stories of human genetic variation leading to fascinating traits and adaptations. We are only scratching the surface of our understanding of the role of genetics in disease and human traits,” notes Patrick Short. “As genome sequencing becomes more widely available, we are likely to find many more examples of protective genetic variants like PCSK9 that can greatly impact the way we treat disease.”

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[1] Newcastle University. Tetrachromacy Project: The Science.

[2] The Body Pro. The Genetic Mutation Behind the Only Apparent Cure for HIV. 2019.

[3] The Guardian. Total recall: the people who never forget. 2017.

[4] Harvard University. A potential new weapon against heart disease: PCSC9 inhibitors. 2015.

[5] Harvard University. A potential new weapon against heart disease: PCSC9 inhibitors. 2015.

[6] Harvard University. A potential new weapon against heart disease: PCSC9 inhibitors. 2015.

[7] The Guardian. Mutation in key gene allows Tibetans to thrive at high altitude. 2010.

[8] BBC. How Tibetans survive life on the ‘roof of the world’. 2017.