Gene therapy of Martin – Bell syndrome
Gene therapy relieved mice of behavioral disorders
Sergey Vasiliev, Naked Science
The method of genetic modification with the help of the bacterial CRISPR/Cas system, which appeared not so long ago, continues to demonstrate its enormous potential. Scientists from the University of California at Berkeley and GenEdit have modified it and successfully used it to treat adult mice with congenital X-chromosome breakage syndrome, which leads to impaired brain formation, behavior and decreased intelligence.
Hye-Young Lee and her colleagues report this in an article published in Nature Biomedical Engineering (Lee et al., Nanoparticle delivery of CRISPR into the brain rescues a mouse model of fragile X syndrome from exaggerated repetitive behaviours).
Hereditary Martin–Bell syndrome (better known as the syndrome of the brittle X chromosome) is caused by a mutation of one of the genes located on it. It leads to the appearance of long repetitive sequences of nucleotides – a site prone to rupture, as well as to the suppression of the FMR1 signaling protein, which plays an important role in regulating the development of neurons and connections between them. As a result, the syndrome can manifest itself as congenital mental retardation and autism spectrum behavioral disorders, including a tendency to repeat stereotypical movements.
The scientists used a model line of laboratory mice with the syndrome of the brittle X chromosome. Gold nanoparticles containing Cas9 protein, capable of selectively binding to the gene of the metabotropic glutamate receptor (mGluR5) and suppressing its work, were introduced into their brains.
Figure from the UC Berkeley CRISPR press release reduces autism symptoms in mice – VM.
Excessive activation of mGluR5 in the striatum (striatum of the brain) is associated with one of the manifestations of the syndrome – stereotypical, aimless repetition of movements. Indeed, after such an intervention, the time of "execution" of such actions by mice fell by 70 percent at once, and scientists did not find any side effects from this gene therapy.
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