MONTREAL, October 19, 2023 /PRNewswire/ — Huda ZoghbiMD, professor of molecular and human genetics, Baylor College of Medicine, made a revolutionary discovery in the field of neurology. Her research shows that mutations in the MECP2 gene are responsible for Rett syndrome, a childhood disorder that primarily affects women and is diagnosed in approximately 1 in 10,000 girls born each year.
Rett syndrome is a late-onset childhood disorder that causes a wide range of serious neurological disabilities, including loss of the ability to speak and socialize, as well as the development of tremors, ataxia, seizures, autonomic dysfunction and stereotypical hand twisting movements.
Dr. Zoghbi’s groundbreaking research not only advances our understanding of Rett syndrome, but also reveals its connection to a spectrum of neuropsychiatric phenotypes, from autism to bipolar disorder.
Using genetically modified mice, Dr. Zoghbi and her team discovered that the brain is extremely sensitive to MeCP2 levels. Decreases and increases in the amount of MeCP2 protein can lead to neurological problems also seen in humans. Dr. Zoghbi discovered that normalizing MeCP2 levels in a mouse model can reverse pathological characteristics in the human body. MECP2 duplication syndrome, a disorder typically found in boys that results from excess MeCP2 protein.
His research also identified the specific neurons and circuit abnormalities that mediate the various symptoms of Rett syndrome. Using either deep brain stimulation or intense presymptomatic training of a mouse model of Rett syndrome, his team showed that many symptoms can be normalized.
“The fact that deep brain stimulation or intense presymptomatic training can normalize circuit function and behavior is very exciting because it tells us that such interventions have the potential to help patients,” said Dr. Zoghbi. This knowledge will allow researchers to explore deep brain stimulation as an option to treat multiple phenotypes of Rett syndrome, providing potential relief to affected individuals.
Additionally, this groundbreaking research has far-reaching implications, not only for Rett syndrome but for a broader spectrum of neuropsychiatric disorders. It gives hope to individuals and families affected by these diseases and highlights the promise of new advances in the field of neurology.
Visit wcn-neurologie.com to learn more about Dr. Zoghbi and all of the research presented at this year’s WCN.
About the World Neurology Congress
The World Federation of Neurology’s World Congress of Neurology brings together leading neuroscientists and public health experts to turn research into action and highlight the importance of brain health across the world. The 26th biennial conference was held in Montreal Since October 15 to 19, 2023and was co-organized by the Canadian Neurological Society (CNS).
About the World Federation of Neurology
With the support of its 123 national member societies, the World Federation of Neurology promotes quality neurology and brain health worldwide by promoting neurological education and training, with emphasis on regions of the world under -funded. As a non-state actor in official relations, WFN supports the efforts of the World Health Organization (WHO) to give everyone an equal opportunity to live a healthy life. With member societies around the world, WFN brings together the world’s neurologists to ensure quality neurology and advocate for better brain health. Learn more about the World Federation of Neurology at wfneurologie.org.
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SOURCE World Federation of Neurology