Science journal: Antisense oligonucleotides are expected to treat MECP2 duplication syndrome

March 8th, 2021 //---Many intellectual disability disorders are caused by copy number variation.
So far, no treatment options for this type of disease have been tested.
MECP2 duplication syndrome (MECP2 duplication syndrome, MDS) is a genetic disease characterized by severe mental retardation, motor dysfunction and epilepsy.
MDS is one of the most common genome rearrangements in men and is the result of duplication of the methyl-CpG binding protein 2 (MECP2) gene locus.

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Researchers from Baylor College of Medicine in the United States have previously found that antisense oligonucleotide (ASO) therapy can reduce the level of MeCP2 protein in a mouse model of MDS and reverse its disease characteristics.

In response to this, these researchers have cultivated a "MECP2 humanized" MDS mouse model in a new study, which carries two human MECP2 alleles, but no endogenous mouse alleles.
gene.
The relevant research results were published in Science Translational Medicine on March 3, 2021.
The title of the paper is "Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome".

Intraventricular injection of MECP2-ASO can effectively down-regulate the expression of MeCP2 in the whole brain of these mice.
In addition, MECP2-ASO alleviated some behavioral defects and molecular abnormalities in a dose-dependent manner, and restored the expression of selected genes regulated by MeCP2 without any toxic side effects.
Therefore, the central nervous system administration of MECP2-ASO is well tolerated and beneficial in this new mouse model, and may provide a transformable method for the treatment of MDS.
(Bioon.
com)

Reference: Yingyao Shao et al.