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American Focus > Blog > Tech and Science > Brain Abnormality in Modern Humans Linked to Ancient Neanderthal DNA : ScienceAlert
Tech and Science

Brain Abnormality in Modern Humans Linked to Ancient Neanderthal DNA : ScienceAlert

Last updated: July 14, 2025 4:05 am
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Brain Abnormality in Modern Humans Linked to Ancient Neanderthal DNA : ScienceAlert
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Neanderthal Genes Linked to Brain Defects, New Study Suggests

A recent study has proposed a fascinating connection between significant brain defects known as Chiari malformations and the genes inherited from Neanderthals. These defects can cause a mismatch between brain shape and skull shape, leading to various health issues.

Chiari malformation type I (CM-I) is a condition where the lower part of the brain extends too far into the spinal cord, often associated with a smaller-than-normal occipital bone at the back of the skull. Symptoms can range from headaches and neck pain to more severe conditions, affecting around 1 in 100 people.

Previous research has suggested that interbreeding between Homo sapiens and other ancient human species may be the root cause of CM-I. A new study led by osteoarchaeologist Kimberly Plomp from the University of the Philippines aimed to test this hypothesis.

The researchers used 3D modeling and shape analysis techniques to compare skulls of individuals with and without CM-I, as well as fossil skulls from ancient species such as Homo erectus, Homo heidelbergensis, and Neanderthals. The analysis revealed that individuals with CM-I had skull shapes similar to Neanderthals, but not to other ancient hominins.

Based on their findings, the research team proposed a Neanderthal Introgression Hypothesis, suggesting that the genes responsible for CM-I are traceable specifically to Neanderthals. This hypothesis challenges previous assumptions and sheds light on the genetic interactions between early Homo sapiens and Neanderthals.

Future research will focus on expanding the sample size of skulls analyzed and testing the hypothesis in diverse populations around the world. This could provide valuable insights into the relationship between CM-I and ancient human populations.

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Ultimately, the study’s findings and methodologies could contribute to a better understanding of Chiari malformations and improve diagnosis and treatment strategies. By unraveling the genetic factors behind these brain defects, researchers hope to develop more effective interventions for affected individuals.

The study has been published in Evolution, Medicine, and Public Health, offering a compelling perspective on the impact of Neanderthal genes on modern human health.

TAGGED:abnormalityAncientbrainDNAHumansLinkedModernNeanderthalScienceAlert
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