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Shock: Congenital brain defects may be caused by Neanderthal DNA

A new study suggests that Chiari - a birth defect of the brain - may be caused by genes we inherited from Neanderthals.

Báo Khoa học và Đời sốngBáo Khoa học và Đời sống16/07/2025

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A new study published in the medical journal Evolution, Medicine, and Public Health suggests that a birth defect called Chiari malformation may be caused by a gene some of us inherited from Neanderthals. Photo: KTSDesign/Science Photo Library/Getty Images.
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The experts' study focused on Chiari malformation - a congenital condition characterized by a prolapse of brain tissue due to a defect in the back of the skull. Photo: Plomp et al., Evol. Med. Public Health, 2025.
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Depending on the severity, people with this malformation may have no symptoms or have symptoms related to motor nerves, pain in some areas ranging from mild to severe. Photo: Sam Falconer.
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The exact cause of this deformity is still unclear. Now, a research team led by osteoarchaeologist Kimberly Plomp at the University of the Philippines has concluded that it is due to genetic factors from humans other than Neanderthals. Photo: earth.com.
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Neanderthals are an extinct species of ancient human, part of the genus Homo (Human) with whom we, Homo sapiens, interbred. Modern humans share about 2% of their DNA with these other ancestors. Photo: Simon Neubauer/Philipp Gunz.
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The new study focuses on Chiari malformation type I (CM-I), in which 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. Photo: aboutmodafinil.com | Flickr Creative Commons.
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The condition, which can lead to headaches, neck pain, and more serious problems, is thought to affect 1 in 100 modern humans. Photo: Stephen Wrote, et al.
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The team used 3D modeling and shape analysis techniques to compare 103 skulls from modern humans with and without CM-I, along with eight fossil skulls from ancient species, including Homo erectus, Homo heidelbergensis, and Neanderthals. Photo: andrewggibson.com.
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Analysis showed that people with CM-I had distinct skull shapes, including the area where the brain connects to the spine. According to experts, this skull shape is similar to that of Neanderthals, not found in other ancient species. Meanwhile, the skulls of other human species are similar to the skulls of people without CM-I. Photo: oist.jp.
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This discovery could pave the way for research to better understand the causes and pathogenesis of Chiari malformation, thereby strengthening diagnostic and treatment methods. Photo: wonderopolis.org.
Readers are invited to watch the video: Behind the success of scientists . Source: VTV24.

Source: https://khoahocdoisong.vn/soc-di-tat-bam-sinh-nao-co-the-do-adn-nguoi-neanderthal-post1555081.html


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