Neanderthal DNA Linked to Autism Spectrum Disorder in Modern Humans

The idea of Neanderthals is often associated with heavy brows, furry pelts, and stone tools. However, recent research suggests that some genetic variants inherited from our ancient cousins could be linked to autism spectrum disorder. Studies have shown that approximately 2% of Eurasian-derived populations carry Neanderthal DNA, which was acquired during interbreeding events with modern humans.

This genetic shuffling has resulted in nearly everyone on Earth carrying at least a trace of Neanderthal ancestry. However, not all variants were beneficial and were weeded out by natural selection. Brain-related genes are particularly unforgiving, making it challenging for minor glitches to be tolerated.

A recent study published in Molecular Psychiatry investigated the influence of archaic human-derived alleles on modern health. Researchers compared whole-genome data from autistic individuals, their unaffected siblings, and unrelated controls across diverse ethnic backgrounds. The findings revealed that both rare and common Neanderthal-derived variants appeared more often in autistic participants.

The pattern was not about carrying more Neanderthal DNA overall but rather possessing specific snippets. Genes guiding how distant brain regions communicate were found to be linked to traits reported by many autistic individuals, including keen pattern recognition alongside social fatigue.

Functional MRI scans confirmed this pattern, showing stronger signaling in visual areas for those who carried the identified Neanderthal variants. The result hints that these ancient genes might sculpt a cognitive profile tuned for intense observation and precise motor planning.

The study suggests that a handful of inherited tweaks can raise the odds of certain traits emerging along a spectrum. These traits might have offered benefits in ancestral environments, and their persistence is linked to advantageous perceptual talents that proved useful enough to persist through interbreeding with modern humans.

While genetics is only part of the autism puzzle, identifying concrete Neanderthal contributions helps explain why autism exists worldwide, independent of culture or upbringing. The findings also reframes neurodiversity as a legacy of humanity’s mixed heritage rather than a modern anomaly.

This research opens up new avenues for investigation into the ongoing influences of ancient hybridization in brain development, human intelligence, and overall health. Future projects will likely probe other neurodevelopmental conditions, explore how Neanderthal variants interact with modern lifestyles, and refine personalized supports.

Source: https://www.earth.com/news/scientists-link-autism-to-neanderthal-dna-genetic-variants-found-in-modern-humans