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06-20-2024

Neanderthal DNA is more common in people with autism

In a recent study, researchers have discovered a fascinating link between Neanderthal DNA and autism spectrum disorder.

This revelation sheds light on the intricate genetic inheritance from our ancient ancestors and its impact on modern human health.

Neanderthal DNA

Neanderthal DNA refers to the genetic material inherited from Neanderthals, ancient human relatives who lived around 400,000 to 40,000 years ago.

When modern humans migrated out of Africa, they interbred with Neanderthals. This interbreeding left traces of Neanderthal DNA in modern non-African populations, comprising about 1-2% of their genomes.

Neanderthal DNA has influenced various aspects of human biology, including immune response and physical traits. Researchers study this DNA to understand its impact on modern health and diseases, shedding light on how our ancient ancestors continue to shape who we are today.

Autism spectrum disorder

Autism, or autism spectrum disorder (ASD), is a developmental condition affecting communication, behavior, and social interaction.

Symptoms vary widely, including challenges with speech, nonverbal communication, and repetitive behaviors. Some individuals with autism have exceptional abilities in specific areas.

Early diagnosis and intervention are crucial for improving outcomes. Autism’s exact causes are unknown, but it involves genetic and environmental factors.

Support and understanding can significantly enhance the quality of life for those with autism, helping them navigate social settings and develop their strengths. Autism is a spectrum, meaning it affects each person differently.

Neanderthal DNA has been intertwined with our own for millennia, shaping various aspects of our biology, such as disease resistance and physical traits.

A recent study by researchers from Clemson University and Loyola University investigates the connection between specific Neanderthal DNA variations and autism. The team analyzed DNA samples from 3,442 individuals, both with and without autism.

They discovered that certain genetic polymorphisms inherited from Neanderthals were more prevalent in individuals with autism across diverse ethnic groups, including black non-Hispanic, white Hispanic, and white non-Hispanic populations.

Significant findings and genetic variations

The study revealed 25 specific polymorphisms that affect gene expression in the brain, which are more common in individuals with autism.

Some of these variations are also linked to epilepsy, a condition frequently associated with autism.

For instance, a variant in the SLC37A1 gene was found in 67% of white non-Hispanic autistic individuals with epilepsy, compared to 26% of autistic individuals without epilepsy and 22% of people without either condition.

“It has been estimated that Eurasian-derived populations have approximately 2 percent Neanderthal DNA, acquired during introgression events shortly after anatomically modern humans migrated out of Africa,” the researchers noted.

The influence of Neanderthal DNA

Previous research has indicated that Neanderthal DNA shapes certain brain structures.

Given that people with autism exhibit similar neural patterns, the researchers aimed to explore the potential role of Neanderthal genes in autism.

Their findings suggest that it’s not the overall amount of Neanderthal DNA that differs between individuals with and without autism, but rather the frequency of specific Neanderthal-derived genetic variants.

Impact of ancient alleles on modern health

The evidence presented in this study is compelling enough to warrant further investigation.

Understanding the influence of ancient human-derived alleles on modern health could provide valuable insights into the lasting impact of Neanderthals on our physiology and the mechanisms underlying autism.

“This is the first study to provide strong evidence for the active role of a subset of rare, as well as some common, Neanderthal-derived alleles in autism susceptibility in multiple major American populations,” wrote the researchers.

Impact of ancient hybridization

The researchers hope their findings will inspire further exploration into the effects of ancient hybridization between Homo sapiens and Neanderthals on brain development, human intelligence, and overall health.

Additionally, this research could spur the development of new clinical resources for individuals with autism.

As we continue to uncover the complex interactions between our ancient ancestors and modern humans, we gain a deeper understanding of how our genetic heritage shapes who we are today.

This study represents a major advancement in understanding autism and the lasting impact of Neanderthal DNA. By exploring the genetic links between Neanderthal ancestry and autism, researchers have uncovered crucial insights that deepen our knowledge of both areas.

These findings pave the way for future studies that could further unravel the genetic and neurological underpinnings of autism, offering hope for new diagnostic and therapeutic approaches.

The study is published in the journal Molecular Psychiatry.

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