10 Unsolved Mysteries Of The Brain
Hutchinson-Gilford progeria syndrome, also known as progeria, is an extremely rare genetic disorder that causes children to suffer symptoms of accelerated ageing. It’s caused by a mutation in the gene that encodes a protein called lamin A, which provides structural support for the cell’s control centre or nucleus. With the faulty protein, nuclei are misshapen and unstable (right), unlike the spherical shape of a healthy nucleus (left). The disorder is invariably fatal, with most patients dying of heart disease in their teens. But clinical trials have recently returned encouraging, if mixed, results for a repurposed cancer drug called lonafarnib, which is thought to deactivate the defective scaffolding protein. Nine of the 25 trial subjects gained weight – something progeria patients struggle with – while 18 experienced improvements in the flexibility of blood vessels, potentially reducing the risk of heart attack and stroke. A second trial is ongoing.
The Human Connectome
The image on the left shows a dissection of a human brain, performed by Eugen Ludwig and Josef Klingler from post-mortem tissue. The dissection reveals major anatomical features of the brain, but it does not reveal the brain’s connections. Shown on the right is a complete map of the major anatomical connections linking distinct regions of the cerebral cortex. The map was generated by biomedical engineer and neuroscientist Patric Hagmann in 2008 from magnetic resonance imaging data acquired from a living person. In its entirety, the brain consists of 10^11 neurons and 10^15 synaptic links, and the total wiring of the brain is estimated to span thousands of miles. The map in the middle shows the human connectome generated by computational cognitive neuroscientist Olaf Sporns using network science tools. Network analysis revealed robust small-world attributes, the existence of multiple modules interlinked by hub regions, and a structural core comprised of a set of brain regions that are highly interconnected. As multiple data sets from multiple participants were analyzed, it became clear that individual connectomes display unique structural features that might explain differences in cognition and behavior.
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