Journal article

An electrochemiluminescence based assay for quantitative detection of endogenous and exogenously applied MeCP2 protein variants

Hannes Steinkellner, Anna Schoenegger, Julia Etzler, Prakasha Kempaiah, Anna Huber, Kathrin Hahn, Katrin Rose, Mark Duerr, John Christodoulou, Alexander V Beribisky, Winfried Neuhaus, Franco Laccone



Methyl-CpG-binding protein 2 (MeCP2) is a multifunctional chromosomal protein that plays a key role in the central nervous system. Its levels need to be tightly regulated, as both deficiency and excess of the protein can lead to severe neuronal dysfunction. Loss-of-function mutations affecting MeCP2 are the primary cause of Rett syndrome (RTT), a severe neurological disorder that is thought to result from absence of functional protein in the brain. Several therapeutic strategies for the treatment of RTT are currently being developed. One of them is the use of stable and native TAT-MeCP2 fusion proteins to replenish its levels in neurons after permeation across the blood-brain barrier (BBB). ..

View full abstract


Funding Acknowledgements

We are very grateful to Prof. Carola Forster from the University Hospital Wurzburg (Germany) for providing us the cell line cerebEND. We also thank Dr. Brigitte Sturm and Dr. Barbara Scheiber-Mojdehkar for their support with the ECLIA instrument and MSc. Esther Baliko for technical assistance with rtPCR. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program. This research did not receive any specific grant from funding agencies in the public, commercial, or non-for-profit sectors.