Bench to Bedside: Genetics of Circadian Rhythms, Part 1 - Louis Ptáček

https://www.ibiology.org/human-disease/genetics-human-circadian-rhythms-sleep/

Overview
Dr. Ptáček introduces the circadian clock and its relationship to sleep. He describes different sleep-wake behaviors including people who go to sleep and awaken exceptionally early or late. By studying families with an advanced sleep phase (ASP) phenotype, he and his colleagues showed that these individuals had a shortened circadian period. Further studies of families with similar sleep-wake behaviors have identified a number of mutations responsible for circadian rhythm regulation.

In Part 2 of the talk, Dr. Fu explains that studies of families with sleep disorders have shown that post-translational modifications of the PER2 protein are involved in regulating circadian rhythms. Casein kinase 1 phosphorylates PER2 and mutations in either CK1 or specific serine residues in PER2 result in an advanced sleep phase phenotype. O-GlcNAcylation of PER2 also participates in regulating circadian rhythms because O-GlcNAcylation blocks the sites usually phosphorylated by CK1.

About Dr. Ptáček
Louis Ptáček leads the Division of Neurogenetics, in the Department of Neurology, at the University of California, San Francisco. He is also an Investigator of the Howard Hughes Medical Institute. Ptáček's interest is in inherited disorders of the nervous system in human families and his early research identified mutations in several ion channels that caused episodic diseases such as periodic paralysis. More recently, in close collaboration with Dr. Fu, his lab has identified genes involved in degenerative muscle disease, epilepsy, movement disorders and sleep/wake disorders.
As an undergraduate, Ptáček studied mathematics at the University of Wisconsin, Madison and he also received his MD degree there.

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