Finding cures for children's genetic diseases


Ancient Proteins Revealed to Play Greater Role in the Developing Embryo


CMRI researchers have solved a part of the puzzle of how cells in an embryo become the many varied cells and organs of the body. Embryology research at CMRI has revealed the importance of the protein TWIST1, belonging to a group of 600-million-year-old proteins, in turning naive cells in the developing embryo into muscle, bone or nerves in order to make a complete body part. Part of the TWIST1 protein, however, showed structural features that it may be connected to other proteins in the cells and such connection may define how the protein works in guiding cell development. This understanding of the intricate connection with other proteins is critically important: TWIST1 protein may act in concert with other proteins, so knowing these interactions is essential for understanding what proteins do and how they work. This information is particularly critical for understanding how mutation of the TWIST1 can lead to birth defects of the head and face associated with the Saethre-Chotzen Syndrome.

Researchers took advantage of many advanced techniques available in the CMRI research facilities. They were able to use ‘proteome profiling’ to find out which proteins were connected to the protein of interest, TWIST1. The researchers were also able to use transcriptome analysis, which involves analysing all the RNAs in the cell. RNA is the molecule for translating the genetic information endowed in the DNA to make functional proteins in the cell. Through these techniques, researchers revealed that without TWIST1, cells remained as stem cells and this would result in defective bone, muscle and nerve growth in the embryo.

This research helps us to understand the causes of childhood diseases and moves us a step closer to developing individualised precision medicine treatments for curing childhood genetic diseases. The article, published in Molecular and Cellular Biology and highlighted by a cover image of the journal, can be found at: