Researchers found some monkeys possess autism-linked gene mutations

monkeyCayo Santiago, Puerto Rico — Researchers say they have found gene mutations commonly linked to autism in monkeys that are living off the coast of Puerto Rico— in a place called Monkey Island.

In a study presented at the 2015 Society for Neuroscience annual meeting recently held in Chicago, the group of researchers revealed that they found that about one out of six of the 1,500 monkeys living freely on the island possess a gene variant in SHANK3 — a gene that is considered to be one of the likeliest to cause autism — found in about one percent of individuals with autism.

The scientists consider it a rare opportunity, to be able to observe a colony of monkeys in their natural habitat who are unbothered by the researchers that observe them from a close proximity. According to one of the scientists, Seth Madlon-Kay, a Duke University graduate student at Michael Platts’s lab in Durham, North Carolina, who presented the study at the event:

“With lab models, you can do great genetic manipulation, but you’re working with mice and flies, whose social lives are not like humans.”

The scientists were able to obtain sequence information from about 240 monkeys in the colony— 200 of them appear to possess the same sequence commonly seen in most people, as well as mice. The scientists found one common variant in the remaining 40 — a variant that was never seen in humans.

Researchers involved in the study have concluded that the type of variant they found in the monkeys would have detrimental effects on the SHANK3 if found in humans. SHANK3 is believed to play a significant role in bolstering the synapses, which is also known as the connection between neurons. Deficiency of which results to the Phelan-McDermid syndrome, a disease characterized by seizures and intellectual disability.

Humans with similar variants are expected to be socially challenged.

Observing the monkeys on the island, however, the scientists found the contrary. According to Madlon-Kay:

“It’s in the opposite direction than you might expect intuitively. In humans if this variant was causing autism-like effects, you might expect less sociality.”

The scientists hope to further their study by observing the variants as a whole. Madlon-Kay continued:

“In the future we’re trying to move away from looking at each individual variant by itself, and looking instead at aggregating across many different common variants. We can see what sort of impact they actually have in a high-stakes social environment.”

Source: Jessica Wright in Spectrum News On monkey island, some animals carry autism-linked mutation