Rett syndrome occurs worldwide in 1 of every 10,000 female births, and is even rarer in boys. Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of the mutation and X-inactivation. (

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October 12, 2020
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Choline, B-vitamins and Autism

The relevance of choline for brain development is well established and choline supplementation has been used in a set of neurological diseases to improve brain outcomes [1, 2]. Choline supplementation in a mouse model of autism improved social interaction and anxiety-like behavior [3]. Rett Syndrome, the most common autism spectrum disorder in females, is a neurodevelopmental disorder characterized by an apparent healthy postnatal development, lasting until 6-18 months old, followed by a rapid regression in language, loss of motor skills, impaired social interaction, anxiety, and the onset of repetitive behaviors [4, 5]. Currently, there is no cure for Rett Syndrome; however, there is encouraging data that suggests that supplemental choline can help.  

In a mouse model of Rett Syndrome, supplementing infant pups with extra choline resulted in improved behavior [6]. In many people Rett Syndrome is caused by gene mutation that creates a metabolic roadblock in methylation. Methylation is important because it is needed to make many important molecules needed by brain, and also, it is needed to control the expression of many genes. Choline, folate and vitamins B12 and B6 are all involved in methylation and it may be that choline has some beneficial effects in autism because of its role in methylation. So far, the best evidence for a role for choline is based on studies in mice, but hopefully studies in people will begin soon.

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:the introduction of a methyl radical into a substance The methylation of metals (that is, the substitution of a metal atom for the hydrogen atom of the hydroxyl group of a methyl alcohol molecule) can result in the metal's becoming volatile.— Corale L. Brierle‍especially: DNA METHYLATION‍As cells begin to specialize into adult tissues, methylation seems to inactivate genes that are no longer needed.— John Travis‍

Rett Syndrome
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Rett Syndrome

Rett syndrome is a rare genetic neurological disorder that occurs almost exclusively in girls and leads to severe impairments, affecting nearly every aspect of the child’s life: their ability to speak, walk, eat, and even breathe easily. The hallmark of Rett syndrome is near constant repetitive hand movements. Rett syndrome is usually recognized in children between 6 to 18 months as they begin to miss developmental milestones or lose abilities they had gained. Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 900 different mutations found on the MECP2 gene.

Who Wrote This X Fact
Steven H. Zeisel MD PhD
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Dr. Zeisel is the Kenan Distinguished University Professor in the Department of Nutrition in the Gillings School of Global Public Health and School of Medicine at the University of North Carolina at Chapel Hill. Dr. Zeisel earned his MD from Harvard Medical School in 1975, was a resident in pediatrics at Yale University from 1975–1977 and earned his PhD in nutrition at the Massachusetts Institute of Technology in 1980. Dr. Zeisel is the Director of the UNC Nutrition Research Institute and Director of the UNC Nutrition and Obesity Research Center (one of 12 centers of excellence funded by the US NIH), North Carolina. Dr. Zeisel and his research team focus on the essential nutrient choline which is especially important during pregnancy and lactation, as choline is critical for brain and eye development. Dr. Zeisel has authored more than 380 scientific publications.


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