According to some estimates, up to one in three people around the world may experience severe anxiety in their lifetime. In a study described today in Cell Reports, researchers at the Weizmann Institute of Science have revealed ...
Dec 11, 2018
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Poets might scoff at the notion that heart and brain are closely related, but scientists led by those at Baylor College of Medicine (www.bcm.edu) say a genetic defect that affects the brain can stop a heart.
Dec 14, 2011
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Researchers have uncovered 30 genes that could, one day, serve as therapeutic targets to reverse Rett syndrome, a rare neurological disorder that affects only girls and is a severe form of an autism spectrum disorder.
Jan 30, 2017
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A Massachusetts General Hospital (MGH) research team has developed a new female mouse model for the neurodevelopmental disorder Rett syndrome and in the process found evidence that relieving symptoms of the genetic disorder ...
Jul 23, 2018
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Neurodevelopmental disorders like autism very likely have their origin at the dawn of life, with the emergence of inappropriate connectivity between nerve cells in the brain. In one such disorder, Rett syndrome, the pathology ...
Jan 18, 2017
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Whitehead Institute researchers have redefined the function of a gene whose mutation causes Rett syndrome, a neurodevelopmental autism spectrum disorder. This new research offers an improved understanding of the defects found ...
Oct 3, 2013
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The brain undergoes dramatic change during the first years of life. Its circuits readily rewire as an infant and then child encounters new sights and sounds, taking in the world and learning to understand it. As the child ...
Jan 9, 2020
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The protein MeCP2 is porridge to the finicky neuron. Like Goldilocks, the neuron or brain cell needs the protein in just the right amount. Girls born with dysfunctional MeCP2 (methyl-CpG-binding protein 2) develop Rett syndrome, ...
Jun 2, 2011
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Most autism spectrum disorders have a complex, multifactorial genetic component, making it difficult to find specific treatments. Rett syndrome is an exception. Babies born with this form of the disorder have mutations specifically ...
Dec 8, 2020
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A new study published today in the journal Science has shown that the childhood disorder Rett syndrome, can be reestablished in adult animals by "switching off" a critical disease causing gene in healthy adult animals. The ...
Jun 2, 2011
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MECP2 (methyl CpG binding protein 2 (Rett syndrome)) is a gene that provides instructions for making its protein product, MECP2, also referred to as MeCP2. MECP2 appears to be essential for the normal function of nerve cells. The protein seems to be particularly important for mature nerve cells, where it is present in high levels. The MeCP2 protein is likely to be involved in turning off ("repressing" or "silencing") several other genes. This prevents the genes from making proteins when they are not needed. Recent work has shown that MeCP2 can also activate other genes. The MECP2 gene is located on the long (q) arm of the X chromosome in band 28 ("Xq28"), from base pair 152,808,110 to base pair 152,878,611.
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2 (this protein), MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females.
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