Rett syndrome is a neurological and developmental disorder that mostly occurs in females. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. For instance, they stop talking even though they used to say certain words. They lose their ability to walk properly. They stop using their hands to do things and often develop stereotyped hand movements, such as wringing, clapping, or patting their hands. Rett syndrome is considered one of the autism spectrum disorders. Most cases of Rett syndrome are caused by a mutation on the MECP2 gene, which is found on the X chromosome.
With organoids to model early growth, scientists employed a developing microscopy technology to observe that new neurons find it hard to reach their developmental goal.
RNA (ribonucleic acid) is involved in many aspects of human health, and a new study published in the journal Nature provides compelling evidence that RNA could be a promising pharmacological target.
Researchers at Massachusetts General Hospital (MGH) have solved a mystery that has long puzzled scientists: How do the bodies of female humans and all other mammals decide which of the two X chromosomes it carries in each cell should be active and which one should be silent?
Researchers performed a study in which they created a total of 168 new maps of chemical marks on DNA strands, known as methylation, in developing mice.
Researchers have effectively edited RNA in a living creature such that the repaired RNA subsequently rectified a mutation in a protein that leads to Rett syndrome—a debilitating neurological disorder that affects people.
Scientists have discovered a major mechanism in the inactivation of X chromosomes, an event that may hold clues to develop treatments for congenital disorders.
It works like a very fine "molecular knob" able to modulate the electrical activity of the neurons of our cerebral cortex, crucial to the functioning of our brain.
Researchers have shown that mutations in four distinct genes that lead to Kleefstra syndrome.