University of Michigan Human Genetics Researcher Awarded R01 to Study Functional Genetics of the Neuronal Sodium Channel Gene SCN8A

Congratulations to Professor Miriam Meisler from the Department of Human Genetics at the University of Michigan for a recently awarded NIH R01 grant for a five year study – “Functional Genetics of the Neuronal Sodium Channel Gene SCN8A”.  Voltage-gated sodium channels are responsible for the rising phase of the action potential during neuronal firing. SCN8A has a broad expression pattern throughout the central nervous system, and mutations of SCN8A in human and mouse result in  disorders including ataxia,dystonia, seizures and impaired cognition. As part of the study, in collaboration with MS Bioworks, Dr. Meisler will carry out in vivo biotinylation of SCN8A using  transgenic mice expressing biotin ligase BirA.  Proteins complexed with the biotinylated channel will be isolated and mass spectrometry will be used to characterize protein complexes.

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