Rett Syndrome research is a major focus of the laboratory. We are interested in the neurobiology of the disorder and are also seeking to develop innovative therapeutic approaches to treat Rett Syndrome.

 

What is Rett Syndrome? (adapted from RSRT website)

  • Rett Syndrome is a genetic disorder characterized by severe neurological and other symptoms
  • It is the most physically disabling of the autism spectrum disorders
  • It strikes at random in early childhood and predominantly affects girls
  • Many girls live into adulthood but require intensive support.
  • There is no treatment for Rett Syndrome other than medications to alleviate anxiety and seizures etc.
  • Though classed a rare disorder, the prevalence of Rett Syndrome equals that of Cystic Fibrosis, Huntington Disease and Motor Neuron disease.

Symptoms include:

  • Loss of speech and motor control
  • Intellectual disability
  • Extreme anxiety
  • Disrupted sleep patterns
  • Seizures
  • Disordered breathing
  • Parkinsonian tremor
  • Loss of functional hand use

 

What causes Rett Syndrome?

  • Rett Syndrome predominantly results from mutations in the MECP2 gene
  • This gene produces a nuclear protein MeCP2 (methyl-CpG-binding protein 2).
  • MeCP2 is multi-functional protein which expressed at especially high levels in the brain
  • Its exact function not fully understood but is thought to include the regulation of many other genes
  • Rett Syndrome is usually sporadic (rather than an inherited disorder)
  • Hundreds of different mutations have been identified in MECP2
  • DNA tests enable a quick, definitive identification if MeCP2 mutations
  • The also predict the inevitable, tragic clinical course for which treatments and cures are urgently needed.

 

mecp2genemecp2protein

 

 

What we are working towards in Glasgow

Using a combination of molecular, genetic, cellular and behavioural approaches, we are attempting to address the following questions:

  1. What are the consequences of Mecp2 mutation on cells and circuits of the nervous system?
  2. Are some cells more vulnerable to MeCP2 deficiency and if so, why?
  3. Which phenotypes of Rett Syndrome are neurological in origin and which result from loss of MeCP2 in the periphery?
  4. Which Rett-like phenotypes are potentially reversible/treatable?
  5. How can we intervene to ameliorate Rett-like phenotypes?

A major aid to answering these questions is the availablity of cellular and animal models of Rett Syndrome.

More details of Rett Syndrome research can be found here:

Lab work on the reversibility of Rett Syndrome-like phenotypes

Review on Rett Syndrome and potential avenues for therapy