Online Brain Science Seminar Series (BSS)

Dr. Huda Y. Zoghbi, MD, Investigator, Howard Hughes Medical Institute

Date/Time

Friday, April 30 2021, 10:00-11:30

Abstract

Epigenetics and Brain Plasticity: Lessons from Rett Syndrome and other MECP2 disorders

Rett syndrome is a delayed-onset childhood disorder, typically found in girls, that causes a broad range of severe neurological disabilities, including loss of the ability to speak and socialize, and the development of tremors, ataxia, seizures, autonomic dysfunction, and stereotypic hand-wringing movements. We discovered that loss-of-function mutations in the MECP2 gene cause Rett syndrome, and before long it became clear that milder mutations in MECP2 can also cause other neuropsychiatric phenotypes ranging from autism to bipolar disorder. Using genetically-engineered mice, we learned that the brain is acutely sensitive to MeCP2 levels; both decreases and increases in the amount of MeCP2 protein can lead to neurological problems that are also observed in humans. Nonetheless, normalizing MeCP2 levels reverses symptoms in a humanized mouse model of MECP2 duplication syndrome, a disorder that results from excess MeCP2 and typically affects boys. Most recently we have found an approach that could delay onset of Rett symptoms, suggesting that earlier diagnosis through screening may be worthwhile for these disorders.

Host

Adrian Moore, Ph.D. Neurodiversity

For inquiries

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