Neuro-developmental disorders linked to genes involved in human brain evolution

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Scientists discover unexpected link between genes involved in human brain evolution and developmental disorders
https://www.eurekalert.org/news-releases/1061031

INTRO: The human brain’s remarkably prolonged development is unique among mammals and is thought to contribute to our advanced learning abilities. Disruptions in this process may explain certain neurodevelopmental diseases.

Now, a team of researchers led by Prof. Pierre Vanderhaeghen (VIB-KU Leuven), together with scientists of Columbia University and Ecole Normale Supérieure has discovered a link between two genes, present only in human DNA, and a key gene called SYNGAP1, which is mutated in intellectual disability and autism spectrum disorders. Their study, published in Neuron, provides a surprisingly direct link between human brain evolution and neurodevelopmental disorders.

The human brain stands out among mammals for its remarkably prolonged development. Synapses – critical connections between neurons of the cerebral cortex, the brain’s main hub for cognition – take years to mature in humans, compared to just months in species like macaques or mice. This extended development, also known as neoteny, is thought to be central to humans' advanced cognitive and learning abilities. On the other hand, it has been hypothesized that disruptions of brain neoteny could be linked to neurodevelopmental disorders such as intellectual disability and autism spectrum disorder.

The lab of Pierre Vanderhaeghen at the VIB-KU Leuven Center for Brain & Disease Research previously discovered that the prolonged development of the human cerebral cortex is mainly due to human-specific molecular mechanisms in neurons. Now, they are investigating these molecular timers in human neurons... (MORE - details, no ads)
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