Project: A Comprehensive Proteomic Characterization of Common CK2 Variants Found in OCNDS

The team of scientists working on this project includes Dr. Karsten Niefind PhD at the University of Cologne in Germany, Dr. Isabel Dominguez PhD at Boston University in the United States, and Dr. Joachim Jose PhD at the University of Munster in Germany. Dr. Niefind has researched the protein structure of CK2, a subunit of which is modified in OCNDS, for many years. Dr. Dominguez is an expert in animal model development and the Wnt signaling pathway, a biological cascade involved in a variety of diseases that is affected by CK2 activity. Dr. Joachim Jose is an expert in the development of drugs that inhibit proteins such as CK2, developing multiple drugs that inhibit CK2 functionality in various ways.

Grant Details:

Project funded for 1 year starting in 2021 for a total of $36,600.

Aims of Grant:

Together, these researchers are undertaking a full characterization of the most common genetic variants in CSNK2A1 on the protein level. The structure of mutant proteins, their stability, and enzyme activity will be investigated. A frog model of OCNDS will also be developed to determine if this model mimics the human disease and if it can be used to study downstream molecular changes and eventually drugs to treat OCNDS. Together, these studies will fully characterize the effects of OCNDS-causing mutations on the molecular and physiologic levels.

Published Results from this Grant to Date:

Dominguez et al., 2021. Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity. Human Genetics 140:1077-1096. 

Link to Research Explained.