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6-inch skeleton found in Chile not of alien: Study

Some of these mutations, though found in genes already known to cause disease, had never before been associated with bone growth or developmental disorders

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The skeleton found was not of an alien. IANS
  • The skeleton found in Chile is not of an alien
  • Instead of an alien, it could be an infant with a bone-ageing disorder
  • The discovery earlier held the interest of many

Ruling out the possibility of the extra-terrestrial origin of a mysterious six-inch skeleton discovered in Chile, scientists have found that it was of a female, likely a foetus, who had a rare, bone-ageing disorder.

Discovered more than a decade ago in an abandoned town in the Atacama Desert, the mummified specimen, nicknamed Ata, started to garner public attention after it found a permanent home in Spain.

Standing just six inches tall with an angular, elongated skull and sunken, slanted eye sockets, the Internet began to bubble with other-worldly hullabaloo and talk of ET. But the analysis by Stanford University School of Medicine scientists suggests that Ata was, without doubt, a human.

Earlier the skeleton was thought to belong to an alien. Pixabay

This was the skeleton of a human female that had suffered severe genetic mutations, according to the study published in the journal published in the Genome Research. Ata, though most likely a foetus, had the bone composition of a six-year-old, an indication that she had a rare, bone-ageing disorder, the study found.

To understand the genetic drivers at play, the researchers extracted a small DNA sample from Ata’s ribs and sequenced the entire genome. The skeleton is approximately 40 years old, so its DNA is modern and still relatively intact. Moreover, data collected from whole-genome sequencing showed that Ata’s molecular composition aligned with that of a human genome.

Wile a small percentage of the DNA was unmatchable with human DNA, that was due to a degraded sample, not extraterrestrial biology, said one of the researchers Garry Nolan, Professor at Stanford. The genomic results confirmed Ata’s Chilean descent and turned up a slew of mutations in seven genes that separately or in combinations contribute to various bone deformities, facial malformations or skeletal dysplasia, more commonly known as dwarfism.

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Some of these mutations, though found in genes already known to cause disease, had never before been associated with bone growth or developmental disorders. Knowing these new mutational variants could be useful, Nolan said, because they add to the repository of known mutations to look for in humans with these kinds of bone or physical 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,” said study co-author Atul Butte of the University of California-San Francisco. IANS

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Males Have Higher Risk of Suffering from Cancer: Study

Researchers explain why cancer risk is higher in males

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Cancer
DNA differences between men and women may explain why cancer risk is higher in males. Pixabay

DNA differences between men and women may explain why cancer risk is higher in males, according to a new study.

In findings published in the Journal of the National Cancer Institute, researchers have reported that loss of function in certain genes of the sex-determining Y chromosome, which is present only in men, may cause them to have an elevated risk for cancer.

Using data from 9,000 individuals, the researchers studied Y-chromosome gene function in patients with various types of cancer. The findings showed that cancer risk increases with loss of function of six key Y-chromosome genes in various types of cells.

“Recent studies have shown that complete loss of the Y chromosome, which is essential to foetal sex differentiation, occurs, with aging, in the cells of some men,” said study author Juan Ramon Gonzalez from Barcelona Institute for Global Health in Spain.

Cancer DNA
Suppression of the Y chromosome can occur as a result of loss of function in the chromosome. Pixabay

“Although the loss of the Y chromosome has previously been associated with higher incidence of cancer, the causes of this association are poorly understood,” Gonzalez added.

These six Y-chromosome genes are involved in cell-cycle regulation, the failure of which can lead to tumour development.

According to the study, understanding the biological differences between men and women in cancer is crucial for the development of personalised lines of treatment and prevention.

“Men are not only at higher risk of cancer than women, they also face a worse prognosis. In fact, these differences partially account for the lower life expectancy of men,” Gonzalez added.

According to the researchers, although men may be more exposed to carcinogens due to the type of work they do and at higher risk because they are less likely to consult a doctor, the study has shown that there are also biological factors that increase cancer risk among men.

“In fact, it seems that one of these factors can be found in the Y chromosome, the very essence of maleness,” said study lead author Alejandro Caceres.

Also Read- Know About the Health Benefits of Green Tea

Suppression of the Y chromosome can occur as a result of loss of function in the chromosome, which would explain previous findings, or as a result of other mechanisms mediated by the chemical (epigenetic) inactivation of the same regions, the research said.

“Certain environmental exposures, for example to tobacco or other harmful substances, could affect chromosome function and lead to epigenetic modifications,” Gonzalez said. (IANS)