The Pathogenesis and Treatment Methods for Rett Syndrome

Abstract

Rett Syndrome is a neurological condition primarily affecting women. Its symptoms include decreased brain size, inability to speak, and coordination problems. Several gene mutations have been discovered to play a role in this disease, with the MeCP2 mutation being the most widely known and frequent cause. Scientists are also attempting to create medicines targeting the genetic mutations that may provide a cure. However, the mechanism behind how MeCP2 affects the human brain on a molecular level remains to be discovered. This article summarises the important findings regarding the causes and the treatments of Rett Syndrome. It compares the current methods to treat this disease, including DAYBUE, the newly FDA-approved medicine and the only current medicine that targets Rett Syndrome. Future studies could revolve around the root causes of Rett Syndrome, such as the lack of MeCP2 in neurons, and attempt to solve the problem fundamentally. The findings are significant for humans to advance on finding a cure for this neurological disease.