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Biomedical scientists at KU Leuven have unraveled parts of a mechanism that may one day help to treat Rett syndrome and other genetic disorders linked to the X chromosome.
Women and most female mammals have two X chromosomes, but only one of these is active in any given cell. This active X chromosome is selected through a flip-of-the-coin process in the very early stages of embryonic development: Each chromosome has a 50/50 chance of remaining active and expressing its genes, or being inactivated through a process called X chromosome inactivation.
Chromosome - Inactivation - Process - Consequences - X
X chromosome inactivation is a perfectly normal process, but the consequences can be devastating when one of the X chromosomes carries a defective gene. This is the case in female patients with Rett syndrome: After one chromosome in each cell becomes inactive, about half of the patient's cells will use the defective gene. Once born, the girls suffer a progressive loss of motor skills and speech. Male patients with Rett syndrome have only one X chromosome, and therefore, no healthy copy of the gene to compensate for the defective one; these patients usually die before birth.
So how can doctors treat Rett syndrome and other X-linked disorders? In theory, the answer is simple: Reactivating the healthy copy on the inactive X chromosome in cells that use the . In practice, however, that's easier said than done.
Stem - Cell - Researchers - Vincent - Pasque
Stem cell researchers from the Vincent Pasque Lab at KU Leuven, together with researchers from the Jean-Christophe Marine lab (VIB/KU Leuven) and the Edith Heard lab (EMBL, Germany) have now solved part of the puzzle. In a paper published in Genome Research, they present new findings on the underlying mechanism of X chromosome reactivation.
The first step toward developing new treatments is figuring out how X chromosome reactivation actually works, explains Adrian Janiszewski (KU Leuven), a co-lead author of...
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