Atacama skeleton was infant girl with bone disease: Study

Genetic analysis shows the tiny, mummified skeleton found in 2003 in Chile belonged to an infant girl with a handful of rare gene mutations linked to dwarfism, deformities and apparent premature ageing.
Genetic analysis shows the tiny, mummified skeleton found in 2003 in Chile belonged to an infant girl with a handful of rare gene mutations linked to dwarfism, deformities and apparent premature ageing.PHOTO: AGENCE FRANCE-PRESSE

MIAMI • The discovery in 2003 sparked international intrigue - a tiny, mummified skeleton with an alien-like head, tucked into a leather pouch found behind a church in the Atacama desert of Chile.

The notion that it was an extra-terrestrial was long ago debunked, but researchers on Thursday said they have gleaned new insights from a full genetic analysis of the skeleton, nicknamed "Ata".

It belonged to an infant girl with a handful of rare gene mutations linked to dwarfism, deformities and apparent premature ageing, said the study in Genome Research.

Experts previously said that the bones appeared to belong to someone between the ages of six and eight, but this advanced wear on the bones was likely a consequence of the child's deformities, not a reflection of her actual age.

In fact, the study said she likely did not live long, and may have been born premature.

"Given the size of the specimen and the severity of the mutations... it seems likely the specimen was a pre-term birth," said the study.

Researchers now say the skeleton - which is incredibly intact - is probably no more than 40 years old.


Researchers say they have gleaned new insights from a full genetic analysis which showed the skeleton, nicknamed "Ata," belonged to an infant girl with a handful of rare gene mutations linked to dwarfism, deformities and apparent premature aging. PHOTO: AFP

Using DNA extracted from the bone marrow, researchers did a whole-genome analysis which determined that she was South American, "with genetic variations that identified her as being from the Andean region inhabited by the Chilean Chilote Indians", said the report.

Senior author Garry Nolan, professor of microbiology and immunology at Stanford University School of Medicine, said "a relatively short list of mutations in genes known previously to be associated with bone development" were found in genes related to dwarfism, scoliosis, and musculoskeletal abnormalities.

Some were previously known to scientists, others were not.

Just how the child came to have these genetic flaws is still a mystery, but researchers suggested contamination from a nearby mine could be to blame.

Professor Nolan said the discovery could one day lead to treatments for people with bone problems.

For now, though, he urged that the skeleton - which is owned by a Spanish archaeological collector - be returned to Chile.

"I think it should be returned to the country of origin and buried according to the customs of the local people."

AGENCE FRANCE-PRESSE

A version of this article appeared in the print edition of The Straits Times on March 24, 2018, with the headline 'Atacama skeleton was infant girl with bone disease: Study'. Print Edition | Subscribe