A recent report published in Genome Research by Stanford University School of Medicine has finally dismissed any rumors that the tiny skeletal remains of a fetus discovered in Chile more than a decade ago may have extraterrestrial origins.
Following five years of deep genomic analysis, researchers have determined the gene mutations that caused the human skeleton’s abnormalities that gave the fetus its strange alien-like appearance.
Never-before-seen molecular abnormalities
The researchers reported finding mutations in several genes responsible for bone development and some never-before-seen molecular abnormalities. The study prompted the researchers to ponder whether looking for only a single mutation or just mutations already associated with a particular disease could be thwarting medical professionals from seeing the correct genetic causes for patients’ symptoms.
“To me, it seems that when doctors perform analyses for patients and their families, we’re often searching for one cause — one super-rare or unusual mutation that can explain the child’s ailment. But in this case, we’re pretty confident that multiple things went wrong,” said Atul Butte, MD, PhD, director of the Institute for Computational Health Sciences at the University of California-San Francisco and co-author of the paper.
The skeleton responsible for these findings, named 'Ata' after the abandoned town in the Atacama Desert of Chile it was discovered in, has long fueled rumors that it is an alien. A picture of the specimen first peaked the attention of study co-author Garry Nolan, a professor of microbiology and immunology at Stanford.
“You can’t look at this specimen and not think it’s interesting; it’s quite dramatic. So I told my friend, ‘Look, whatever it is, if it’s got DNA, I can do the analysis," Nolan said.
Nolan enlisted the help of Ralph Lachman, a clinical professor of radiology at Stanford and expert in pediatric bone disease, to determine the skeleton’s true nature. What they found was that Ata was indeed a human female, likely a fetus, exhibiting severe genetic mutations and possibly a bone-aging disorder.
Entire genome sequenced
Nolan then turned to Butte for a thorough genomic evaluation that saw the team extract a DNA sample from Ata’s ribs and sequence her entire genome. The results revealed that Ata’s structural oddities were caused by mutations in seven genes.
The researchers also identified gene mutations not previously associated with bone growth or developmental disorders. The discovery of these variants is useful to the medical community as these mutations will now be added to the repository of known symptoms for identifying these conditions.
“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, and we’re going to want to make sure that if there’s one mutation, we know that — but if there’s more than one, we know that too,” Butte concluded.
Via: Genome Research