Child’s Rare Neurological Disorder Linked to SYT1 Gene Mutation
May 15, 2020 | Biotechnology
Reading time: 3-4 minutes
Genetic Engineering and Biotechnology News (GEN) published an interesting article covering Biotech:
A neuroscience lab at the University of Wisconsin, Madison, had inspiration for a research project come in an unusual way—via a 2015 email from the mother of a two-year-old girl who had learned to walk only with intensive physical therapy, and who could not yet speak or play like a typical child her age. After testing her daughter, physicians told the mother that a mutation in the synaptotagmin-1 (SYT1) gene could be the cause as heterozygous missense mutations in syt1 have recently been associated with a severe but heterogeneous developmental syndrome, termed syt1-associated neurodevelopmental disorder. Syt1 acts as a Ca 2+ sensor that synchronizes neurotransmitter release with Ca 2+ influx during action potential firing of a neuron.
The result of that mother’s email to Edwin Chapman, PhD, professor in the department of neuroscience at the University of Wisconsin, Madison, is a recent study showing how mutations in (syt1) can lead to a rare condition known as syt1-associated neurodevelopmental disorder. In this study, the researchers report the clinical, physiological, and biophysical characterization of three syt1 mutations from human patients.
The scientists’ discovery led them to identify a possible treatment, which is reported in the paper “Molecular basis of rare neurological disorder reveals potential treatment,” published in Neuron.
For nearly 30 years, Chapman, has studied the structure, function, and dynamics of the release of neurotransmitters from neurons. “What was remarkable for me at a personal level was how keen they were to find out exactly what had happened,” Chapman said. “I knew we could figure out the precise problem, and with the support of the parents, we delved into... Want to read more? You can view the full article in the GEN – Genetic Engineering and Biotechnology News Blog.
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