Rett Syndrome is an X-linked neurodevelopmental disease that primarily affects girls and is caused in the majority of cased by mutations in Methyl-CpG-binding Protein 2 (MECP2). Dr. Neul’s lab uses animal models and molecular techniques to understand the mechanisms that cause some of the specific clinical features found in Rett syndrome. Specifically, his lab investigates the neuroanatomic and molecular basis of autonomic abnormalities.
The Neul lab determined that a mouse model reproduces many of the autonomic abnormalities observed in people with Rett syndrome, including breathing problems and abnormal heart rhythm. Male mice that lack all MECP2 function also have a markedly shortened lifespan. The Neul lab uses tissue conditional knock-out techniques to remove MECP2 from particular anatomic regions and to determine the specific phenotypic abnormalities that result.
The Neul lab has discovered that MeCP2 plays a role within aminergic neurons (dopamine, norepinephrine, serotonin) to control the expression of the synthetic enzymes that control the production of these neurotransmitters and that disruption of MeCP2 within these neurons results in specific behavioral abnormalities. Subsequently, the lab determined that removing MeCP2 from the medulla and spinal cord results in premature death and autonomic abnormalities.
Currently, the Neul lab is using molecular and cellular techniques to determine which neural circuits underlie these abnormalities. The goal is to use this information to develop therapeutic strategies to treat these phenotypes in the animal model and eventually to translate this knowledge into clinical treatment approaches.
Visit the Neul lab website at: http://neullab.com/index.html