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L04.Rett - Lecture 4 Rett Syndrome Reading Chahrour and...

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Lecture 4: Rett Syndrome Jan 15, 2009 Reading: Chahrour and Zoghbi review (pdf available on web).
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Frequency: 1:10,000 females, males rare Symptoms: normal 1-18 months, progressive regression
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The spectrum of phenotypes seen in females with MECP2 mutations Classic Rett Syndrome Mental retardation with seizures Angelman-like Autism Mild mental retardation Normal intelligence
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Outline Genetic basis of Rett Syndrome The expanding list of MECP2 disorders Studying the functions of MeCP2 -Animal models -Protein studies Towards understanding the pathophysiology of Rett syndrome
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i.e. sporadic disease
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Amir et al., Nature Genetics, 1999
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The profile of MeCP2 expression in postnatal neurons suggests a role in activity-dependent synaptic plasticity
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What happens when there is a mutation in MECP2 ? Normal sequence Normal protein AGTACTTA “Rett” sequence “Truncated” protein AGTAC C TA “Rett” sequence Abnormal protein A A TACTTA CTTC T CGG
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MECP2 mutations and Rett syndrome
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