Posted on 10/10/2022 7:37:57 PM PDT by ConservativeMind
Pediatric encephalopathies of genetic origin cause severe motor and intellectual disabilities from birth. One of these diseases is caused by mutations in the GNAO1 gene. In order to understand the finer details of the resulting disturbances, scientists conducted atomic, molecular and cellular analyses.
They discovered a mutation leads to the replacement of one amino acid by another in protein sequence. This is enough to disrupt the activation and deactivation mechanism of the encoded protein, thereby altering the ability of neurons to communicate correctly with their environment.
A simple zinc molecule, commonly used in other contexts, could restore, at least partially, the functioning of the protein affected by these mutations. These results give hope of a treatment that could change the lives of patients and their families.
Children with mutations in the GNAO1 gene show significant clinical disorders: delayed intellectual and motor development, uncontrollable movements, as well as more or less severe epilepsy, sometimes accompanied by brain damage and atrophy.
The research team performed high-throughput screening of thousands of approved drugs with the idea of identifying a molecule capable of reactivating hydrolysis.
One molecule, zinc pyrithione, stood outs: it corrects the loss of intracellular interactions by bringing glutamine 205 close to its normal structural location, allowing GTP hydrolysis to occur.
"This is an old antifungal and antibacterial drug used in cream form for certain skin diseases. Very easy to find in any pharmacy, it is already approved for the treatment of mild depression, insomnia and even in some developmental disorders in children," says Vladimir Katanaev.
To confirm this result, the research team used an innovative animal model: the Drosophila fly.
"The flies had mobility issues and a reduced lifespan." However, adding zinc to their diet throughout their lives, from the larval stage onwards, enabled them to eliminate these symptoms almost completely.
(Excerpt) Read more at medicalxpress.com ...
Wouldn’t, Not would. Darn it.
That means it’ll be immediately banned by the CDC.
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