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Why the Fugate Family Has Blue Skin

ABCNews
ABCNews

No need to adjust the colors on your monitor, or spend time trying to figure out how the image above was altered. It wasn't.

The family pictured above, the Fugates of eastern Kentucky, actually have blue-tinged skin, the result of a condition called methemoglobinemia. It’s caused by a type of hemoglobin that can’t carry oxygen through the blood—and because the blood isn’t oxygenated, it makes skin look blue, lips look purple, and blood look chocolate-colored.

Most people have less than 1 percent of methemoglobin. When that level rises to 10-20 percent, the result is blue-tinged skin. While the genetic condition didn’t seem to have any notable health impact, it did affect the Fugate family psychologically, causing them to retreat from public life.

They also had to deal with the shame associated with inbreeding. Think back to the Punnett squares you had to diagram in 8th-grade science class. The gene that creates methemoglobinemia is recessive, so it likely wouldn’t have been a problem—except that the Fugate family married within itself. This wasn’t uncommon back in the 1800s, when cousins married cousins without a second thought. But as more became known about genetics and the consequences of reproducing with family members, the Fugates’ blue skin became almost like a scarlet letter … or an indigo letter, as it were. And so they withdrew further from society, becoming something of an urban legend in Kentucky.

In the 1960s, Dr. Madison Cawein was able to test two Fugate descendants, Patrick and Rachel Ritchie. “They were bluer’n hell,” Cawein said. “They were really embarrassed about being blue. They wouldn’t come into the waiting room. You could tell how much it bothered them.” After conducting many blood tests, Cawein came to the conclusion that methemoglobinemia was the root of the problem, and determined that he could convert the methemoglobin back by simply injecting a missing enzyme to oxygenate the blood. Strangely, the easiest way to do this was with a chemical called methylene blue. Though the family thought the doctor was completely crazy—after all, how could injecting them with another blue substance make them less blue?—they allowed Cawein to give it a shot.

It worked almost instantaneously. ''Within a few minutes, the blue color was gone from their skin," the doctor said. "For the first time in their lives, they were pink. They were delighted."

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Robin Stott, via Flickr // CC BY-SA 2.0
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15 Overlooked Facts about Rosalind Franklin
Robin Stott, via Flickr // CC BY-SA 2.0
Robin Stott, via Flickr // CC BY-SA 2.0

Today is the 60th anniversary of the death of English chemist Rosalind Franklin, a brilliant and dedicated scientist best known for the honor denied her: the 1962 Nobel Prize for discovering the structure of DNA. Here are 15 facts about her.

1. SHE KNEW HER CALLING EARLY, BUT HER FATHER RESISTED EDUCATING A DAUGHTER.

Rosalind Elsie Franklin was born in London in 1920. She was one of five children born into a wealthy Jewish family. She decided she wanted to become a scientist at 15, and passed the admissions exam for Cambridge University. However, her father, Ellis, a merchant banker, objected to women going to college and refused to pay her tuition. Her aunt and mother finally managed to change his mind, and she enrolled at Cambridge's all-female Newnham College in 1938.

2. SHE ATTENDED COLLEGE WITH ANOTHER WOMAN WHO DIDN'T GET FULL CREDIT FOR HER WORK.

Bletchley Park cryptanalyst Joan Clarke was a few years older than Franklin, but they were both at Newnham in the late 1930s. Clarke would go on to be recruited for the war effort, cracking the German Enigma codes. The full scope of Clarke's work is still unknown, due to government secrecy.

3. HER SCHOLASTIC ACHIEVEMENTS WERE DENIED BY HER UNIVERSITY FOR YEARS.

Newnham College, Cambridge
Azeira, Wikimedia Commons // Public Domain

Despite Newnham College having been at Cambridge since 1871, the university refused to accept women as full members until 1948, seven years after Franklin earned the title of a degree in chemistry. Oxford University started granting women's degrees in 1920.

4. HER RESEARCH ON COAL HELPED THE AEROSPACE INDUSTRY.

After graduation, Franklin got a job at the British Coal Utilization Research Association (BCURA), where she researched coal and charcoal, and how it could be used for more than fuel. Her research formed the basis for her 1945 doctoral dissertation; it and several of her later papers on the micro-structures of carbon fibers played a role in the eventual use of carbon composites in air- and spacecraft construction.

5. HER MALE COLLEAGUES WERE HOSTILE AND UNDERMINED HER RESEARCH.

Franklin had a direct nature and was unwilling to be traditionally feminine. One reason she left Cambridge to work on coal was that her doctoral supervisor did not like her and believed women would always be less than men. When she was hired in 1951 at King's College, London, to work on DNA, she clashed with researcher Maurice Wilkins, who had thought she was his assistant, not his equal. Meanwhile, Franklin was under the impression that she'd be completely independent. Their relationship got worse and worse the longer they worked together. Wilkins went so far as to share Franklin's research without telling her with James Watson and Francis Crick—even though they were technically his competitors, funded by Cambridge University. Watson was particularly nasty about Franklin in his 1968 book, The Double Helix, criticizing her appearance and saying she had to be “put in her place.”

6. HOW EVENTS UNFOLDED IN THE DISCOVERY OF DNA'S STRUCTURE IS STILL DEBATED TODAY.

Double helix of DNA
Altayb, iStock

Many books have been written hashing over events, either criticizing Watson and Crick, saying they stole Franklin's research, or defending the duo, saying her research helped them but that Franklin would not ultimately have reached their conclusions on her own. Though Franklin and Watson never became friendly, Crick and his wife welcomed Franklin into their home while she was being treated for ovarian cancer.

7. HER WORK MAY HAVE LED TO HER UNTIMELY DEATH.

Franklin died of cancer in 1958. She was 37. Though genetics likely played a part in her illness, her work with crystal x-ray diffraction, which involved constant exposure to radiation, did not help. She is not the first woman in science to risk her health for her research. Marie Curie died from aplastic anemia, which has been tied to radiation exposure. Many of Curie's personal belongings, including her cookbooks, are too radioactive to handle even today.

8. HAD SHE LIVED LONGER, SHE MAY HAVE QUALIFIED FOR MORE THAN ONE NOBEL PRIZE.


Maurice Wilkins (on left), Francis Crick (third from left), and James Watson (fifth from left) accept their Nobel Prize in 1962.
Keystone, Getty Images

The first, of course, would have been awarded with Watson, Crick, and Wilkins, had they been made to share credit with her. (Pierre Curie had to ask the Nobel Committee to add his wife to the nomination in 1903.) As for the second, chemist Aaron Klug won the prize in 1982, carrying on work he and Franklin had started on viruses in 1953, after she left King's College. Because of the rules at the time of her death about awarding prizes posthumously (and in 1974 all posthumous awards were eliminated, the sole exception being in 2011), Franklin has none.

9. DESPITE BEING DENIED HER PRIZE, SHE'S BEEN HONORED BY MANY ACADEMICS.

In 2004, the Chicago Medical School renamed itself the Rosalind Franklin University of Medicine and Science. She has also had a number of academic programs, auditoriums, and labs named for her. In 2013, Newnham College principal Dame Carol Black helped install a plaque commemorating Franklin at the Eagle Pub in Cambridge. Crick and Watson, who already had a plaque in the pub, drank there often while working on the DNA project, and allegedly boasted about discovering “the secret of life” to other patrons.

10. SHE IS THE SUBJECT OF SEVERAL BIOGRAPHIES.

The first, 1975's Rosalind Franklin and DNA, was written by her friend Anne Sayre, largely as a reaction to Watson's The Double Helix. In 2002, Brenda Maddox published Rosalind Franklin: The Dark Lady of DNA.

11. AN OBJECT IN SPACE IS NAMED AFTER HER.

In 1997, amateur Australian astronomer John Broughton discovered an asteroid, which he named 9241 Rosfranklin.

12. AT LEAST ONE HISTORY RAP BATTLE IS ABOUT HER.

It was produced by seventh graders in Oakland, California (with some help from teacher Tom McFadden). And it is delightful.

13. SHE HAS BEEN IMMORTALIZED ON THE SMALL SCREEN AND THE BIG STAGE.

In 1987, BBC's Horizon series aired The Race for the Double Helix, starring Juliet Stevenson as Franklin. Jeff Goldblum played Watson. In 2011, playwright Anna Ziegler premiered a one-act about Franklin called Photograph 51. It opened on the West End in 2015, starring Nicole Kidman as Franklin.

14. THE 2015 RUN OF PHOTOGRAPH 51 RE-IGNITED THE OLD CONTROVERSY.

While Kidman got much praise from critics for her turn as Franklin in Photograph 51, Maurice Wilkins' friends and former colleagues have taken exception to a scene where Wilkins takes a photograph—the titular Photo 51, which showed evidence of DNA's structure—from Franklin's desk when she isn't there, saying he would never have done something so dishonorable.

15. THE PLAY MAY COME TO THE BIG SCREEN IN THE NEXT FEW YEARS.

In 2016, the West End production's director, Michael Grandage, told The Hollywood Reporter that he hopes to turn the play into a film, with Kidman reprising the role.

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Emery Smith
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Stones, Bones, and Wrecks
The 'Alien' Mummy Is of Course Human—And Yet, Still Unusual
Emery Smith
Emery Smith

Ata has never been an alien, but she's always been an enigma. Discovered in 2003 in a leather pouch near an abandoned mining town in Chile's Atacama Desert, the tiny, 6-inch mummy's unusual features—including a narrow, sloped head, angled eyes, missing ribs, and oddly dense bones—had both the “It's aliens!” crowd and paleopathologists intrigued. Now, a team of researchers from Stanford University School of Medicine and UC-San Francisco has completed a deep genomic analysis that reveals why Ata looks as she does.

As they lay out in a paper published this week in Genome Research, the researchers found a host of genetic mutations that doomed the fetus—some of which have never been seen before.

Stanford professor of microbiology and immunology Garry Nolan first analyzed Ata back in 2012; the mummy had been purchased by a Spanish businessman and studied by a doctor named Steven Greer, who made her a star of his UFO/ET conspiracy movie Sirius. Nolan was also given a sample of her bone marrow; his DNA analysis confirmed she was, of course, human. But Nolan's study, published in the journal Science, also found something very odd: Though she was just 6 inches long when she died—a typical size for a midterm fetus—her bones appeared to be 6 to 8 years old. This did not lead Nolan to hypothesize an alien origin for Ata, but to infer that she may have had a rare bone disorder.

The current analysis confirmed that interpretation. The researchers found 40 mutations in several genes that govern bone development; these mutations have been linked to "diseases of small stature, rib anomalies, cranial malformations, premature joint fusion, and osteochondrodysplasia (also known as skeletal dysplasia)," they write. The latter is commonly known as dwarfism. Some of these mutations are linked to conditions including Ehlers-Danlos syndrome, which affects connective tissue, and Kabuki syndrome, which causes a range of physical deformities and cognitive issues. Other mutations known to cause disease had never before been associated with bone growth or developmental disorders until being discovered in Ata.

scientist measures the the 6-inch-long mummy called Ata, which is not an alien
Emery Smith

"Given the size of the specimen and the severity of the mutations … it seems likely the specimen was a pre-term birth," they write. "While we can only speculate as to the cause for multiple mutations in Ata's genome, the specimen was found in La Noria, one of the Atacama Desert's many abandoned nitrate mining towns, which suggests a possible role for prenatal nitrate exposure leading to DNA damage."

Though the researchers haven't identified the exact age of Ata's remains, they're estimated to be less than 500 years old (and potentially as young as 40 years old). Genomic analysis also confirms that Ata is very much not only an Earthling, but a local; her DNA is a nearest match to three individuals from the Chilote people of Chile.

In a press statement, study co-lead Atul Butte, director of the Institute for Computational Health Sciences at UC-San Francisco, stressed the potential applications of the study to genetic disorders. "For me, what really came of this study was the idea that we shouldn't stop investigating when we find one gene that might explain a symptom. It could be multiple things going wrong, and it's worth getting a full explanation, especially as we head closer and closer to gene therapy," Butte said. "We could presumably one day fix some of these disorders."

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