Autonomic dysfunction with mutations in the gene that encodes methyl-CpG-binding protein 2: Insights into Rett syndrome

Daniel T. Lioy, Wendy Wu, John M. Bissonnette

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

Rett syndrome (RTT) is an autism spectrum disorder with an incidence of ~. 1:10,000 females (reviewed in Bird, 2008; Chahrour et al., 2007; Francke, 2006). Affected individuals are apparently normal at birth. Between 6-18. months of age, however, RTT patients begin to exhibit deceleration of head growth, replacement of purposeful hand movements with stereotypic hand wringing, loss of speech, social withdrawal and other autistic features. RTT is caused by loss of function mutations in the gene that encodes methyl-CpG-binding protein 2 (Mecp2) (Amir et al., 1999), a transcriptional repressor that targets genes essential for neuronal survival, dendritic growth, synaptogenesis, and activity dependent plasticity. MECP2 is X-linked, and males die soon after birth. Included in the RTT phenotype are cardiorespiratory disorders involving the autonomic nervous system. The respiratory disorders, including the roles of bioaminergic and brain derived neurotrophic factor (BDNF) signaling in the respiratory pathophysiology of RTT have been recently reviewed (Bissonnette et al., 2007a; Ogier et al., 2008; Katz et al., 2009). Here we will cover the work on RTT regarding respiration that has appeared since 2009 as well as cardiovascular abnormalities.

Original languageEnglish (US)
Pages (from-to)55-62
Number of pages8
JournalAutonomic Neuroscience: Basic and Clinical
Volume161
Issue number1-2
DOIs
StatePublished - Apr 26 2011

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Methyl-CpG-Binding Protein 2
Rett Syndrome
Mutation
Genes
Autonomic Nervous System Diseases
Hand
Parturition
Cardiovascular Abnormalities
Deceleration
Essential Genes
Brain-Derived Neurotrophic Factor
Growth
Birds
Respiration
Head
Phenotype
Incidence

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Endocrine and Autonomic Systems

Cite this

Autonomic dysfunction with mutations in the gene that encodes methyl-CpG-binding protein 2 : Insights into Rett syndrome. / Lioy, Daniel T.; Wu, Wendy; Bissonnette, John M.

In: Autonomic Neuroscience: Basic and Clinical, Vol. 161, No. 1-2, 26.04.2011, p. 55-62.

Research output: Contribution to journalArticle

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