Rett syndrome is a rare genetic neurodevelopmental disorder caused by mutations in the MECP2 gene that lead to a loss of functional MeCP2 protein production.
Researchers are investigating new ways to restore functional MeCP2 protein production to potentially treat Rett syndrome.
One strategy is to deliver a healthy copy of the MECP2 gene to the body so the cells can use it to make functional MeCP2 protein, a method known as gene therapy. Gene therapy is, however, challenging because it is difficult to dose the number of delivered MECP2 gene copies accurately, and high levels of MeCP2 are harmful to cells.
The delivery of the MeCP2 protein itself is being investigated as an alternative to gene therapy because dosing can be done more accurately with proteins. This approach is still in the early stages of development and has its challenges.
Crossing the blood-brain barrier
One challenge when delivering proteins to the brain is the blood-brain barrier. This barrier functions to protect the brain from harmful substances but makes it difficult to transport therapeutic agents to the brain.
The brain controls the entry of substances with the help of receptors. Receptors recognize molecules like a lock recognizes the right key. Some small molecules can cross the barrier freely, but larger molecules such as proteins can pass the blood-brain barrier only by binding to receptors.
Biotechnology company ArmaGen developed a technology that fuses proteins to molecules that are recognized by receptors in the blood-brain barrier, enabling the delivery of proteins to the brain. ArmaGen’s scientists are currently trying to fuse the MeCP2 protein to such a molecule.
Entering the cell nucleus
Another challenge of protein delivery is getting the protein into the nucleus of the cells, which is where genetic information is stored. As a protein that regulates the activity of other genes, MeCP2 performs its function inside the nucleus. Researchers have developed a small protein, which they call a mini-protein, that can facilitate the uptake of MeCP2 protein by cells.
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