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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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Gino Fornaciari, University Of Pisa
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Stones, Bones, and Wrecks
Scientists Accidentally Discover Ancient Hepatitis B in a 16th-Century Mummy
Gino Fornaciari, University Of Pisa
Gino Fornaciari, University Of Pisa

Since the 1980s, a child mummy buried in the Basilica of Saint Domenico Maggiore in Naples, Italy in the 16th century has been known as the earliest recorded case of smallpox in the world. The problem is, the 2-year-old didn’t have smallpox, according to new research spotted by IFLScience. But, as the scientists reexamining the remains discovered, it’s still a landmark study in disease evolution. It appears to be the earliest instance of hepatitis B that researchers have ever found in Italy, giving scientists insight into how the virus has evolved over the last several centuries.

The hepatitis B virus (HBV) attacks the liver and can result in cirrhosis and liver cancer, killing around 887,000 people per year. Though it can now be largely prevented by a vaccine, the World Health Organization estimates that 257 million people around the world live with HBV. It often affects children, spreading from mother to child during birth.

For the current study published in PLOS Pathogens, a team of researchers from McMaster University in Canada set about studying the child mummy with the hopes of continuing their past work nailing down how smallpox spread and evolved over human history. But when they used molecular analysis to study the mummy’s skin and bones, they didn’t find anything that indicated that the toddler had smallpox. Instead, they found the hepatitis B virus—which can cause a rash called Gianotti-Crosti Syndrome that the original researchers studying the mummy may have mistaken for the telltale rash associated with smallpox.

The ancient HBV strain found in the mummy's tissues had a genome closely related to that of the modern virus, which, The New York Times explains, could very well mean that the mummy was contaminated when it was first studied in the 1980s. But after analyzing the genetic material further and studying other examples of older HBV strains, they found that it’s plausible that the virus just hasn’t evolved extensively in the past 500 years. Though the contamination theory is still possible, it’s more likely that the mummy really does carry an ancient version of the virus. Considering that HBV has also been traced back to the 16th century in Asia, it’s likely that Europeans were suffering from it around the same time.

[h/t IFLScience]

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Illustration by Eric S. Carlson in collaboration with Ben A. Potter
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Stones, Bones, and Wrecks
11,500-Year-Old Skeleton Reveals an Unknown Group of Ancient Migrants to the Americas
Illustration by Eric S. Carlson in collaboration with Ben A. Potter
Illustration by Eric S. Carlson in collaboration with Ben A. Potter

In 2013, deep in the forest of central Alaska's remote Tanana River Valley, archaeologists unearthed the remains of a 6-week-old baby at a Late Pleistocene archaeological site. The tiny bones yielded big surprises for researchers, who announced this week that the child's genome—the oldest complete genetic profile of a New World human—reveals the existence of a human lineage that was previously unknown to scientists. Related to yet genetically distinct from modern Native Americans, the infant offers fresh insights into how the Americas were first peopled, National Geographic reports.

Published in the journal Nature on January 3, the study analyzed the DNA of the infant, whom the local Indigenous community named Xach'itee'aanenh T'eede Gaay ("sunrise girl-child" in the local Athabascan language). Then, researchers used genetic analysis and demographic modeling to identify connections between different groups of ancient Americans. This allowed them to figure out where this newly identified population—named Ancient Beringians—fit on the timeline.

University of Alaska Fairbanks professors Ben Potter and Josh Reuther excavate at the Upward Sun River site in central Alaska.
Members of the archaeology field team watch as University of Alaska Fairbanks professors Ben Potter and Josh Reuther excavate at the Upward Sun River site.
UAF photo courtesy of Ben Potter

The study suggests that a single founding group of Native Americans separated from East Asians some 35,000 years ago. This group, in turn, ended up dividing into two distinct sub-groups 15,000 years later, consisting of both the Ancient Beringians and what would eventually become the distant ancestors of all other Native Americans. The division could have occurred either before or after humans crossed over the Bering land bridge around 15,700 years ago.

After arriving in the New World, Ancient Beringians likely remained north, while the other population spread out across the continent. Eventually, the Ancient Beringians either melded with or were replaced by the Athabascan peoples of interior Alaska. 

The study provides "the first direct evidence of the initial founding Native American population, which sheds new light on how these early populations were migrating and settling throughout North America," said Ben Potter, the University of Alaska-Fairbanks archaeologist who discovered the remains, in a news release. Potter was a lead author of the study, along with Eske Willerslev and other researchers at the Center for GeoGenetics at the University of Copenhagen's Natural History Museum of Denmark.

[h/t National Geographic]

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