Since 2009, researcher Pierre Colas and his colleagues have been studying the protein kinase CDK10 / CycM, protein kinase, notably implicated in STAR and Al Kaissi syndromessyndromes, at the Laboratoire de biologie intégrative des modèles marins (LBI2M) at the Roscoff Biological Station. L’équipe y a découvert l’interaction entre CDK10 et Cycline M, mis au jour l’activité enzymatique du complexe, et contribué à la caractérisation du syndrome Al Kaissi.
Classified as rare diseases, STAR and Al Kaissi syndromes cause severe developmental disorders that result in a constellation of anatomical and functional anomalies (fused fingers, abnormally large distance between the eyes, renal, ano-genital and skeletal anomalies, cognitive deficits, etc.).
This research was supported by the CNRS Foundation, with the backing of Groupama Loire Bretagne, which works with the Groupama Foundation to combat rare diseases.
Thanks to this support, research will be able to progress in three main areas: identification of proteins phosphorylated by CDK10 / CycM, identification of genes whose expression is controlled by CDK10 / CycM and functional characterization of mutated forms discovered in patients. The expected results could lead to improved medical follow-up and quality of life for patients. A recent collaboration with Jean Muller(Medical Genetics Laboratory, INSERM / University of Strasbourg) also promises to accelerate research.
