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Karolinska Research Lecture – Huda Zoghbi

//Karolinska Research Lecture – Huda Zoghbi

Karolinska Research Lectures at NOBEL FORUM

November 5, 16.30, Free admission

Speaker: Huda Y. Zoghbi

Jan and Dan Duncan Neurological Research Institute, at Texas Children’s Hospital, Houston, USA

Lab webpage:  https://www.bcm.edu/research/labs/huda-zoghbi

Titel: Lessons in neuronal function from Rett syndrome and related disorders

Rett Syndrome is a fascinating disease for scientists and an unmitigated tragedy for parents: children are apparently healthy for the first year or two after birth, then abruptly—over a matter of weeks—lose acquired motor and cognitive skills, stop speaking, and gradually develop a host of unsettling features such as respiratory dysrhythmias, stereotypic hand-wringing or hand-flapping, constant crying, and seizures. Although the presentation varies widely, the disease seems to affect virtually all brain regions. The genetic basis of this strange disease is loss of function mutations in the X-linked gene MECP2, which encodes Methyl-CpG-binding protein 2 (MeCP2). We have used genetic, behavioral, physiological, anatomical, and molecular approaches to interrogate the pathogenesis of Rett and other disorders involving either loss of MeCP2 function or duplication of the MECP2 region. Although many questions remain unanswered about the precise activities of this protein, one thing is absolutely clear: the brain is exquisitely sensitive to MeCP2 levels. Even modest decreases or modest increases in the protein levels cause neuropsychiatric phenotypes. I will discuss recent work that sheds light on the roles MeCP2 serves in neurons, how it orchestrates an epigenetic program that alters chromatin architecture to influence neuronal network activity and excitatory/inhibitory balance, and the effects of manipulating either MeCP2 levels or the network in animal models.

 Host: Sandra Ceccatelli och Tomas Hökfelt, Karolinska Institutet

Contact: tomas.hokfelt@ki.se

Contact:Tatiana Goriatcheva, Nobel Office, Nobel Forum,

tel. 524 87805, tatiana.goriatcheva@nobel.se

2016-06-21T10:32:50+00:00