Scientists investigate the effects of Mecp2 deficiencies

A team of scientists have used high performance liquid chromatography processes to increase their understanding of how biogenic amines and their metabolites are differentially affected by deficiencies in the X-linked methyl-CpG binding protein 2 (MECP2) gene.

The study, published by BMC Neuroscience, was undertaken as mutations in the Mecp2 gene causes a severe neurological disorder called Rett syndrome which occurs in females in around one in every 15,000 births.

Rett syndrome presents no symptoms from birth, but from age six to 18 months toddlers will slow in development and then regress, showing problems with autonomic, cognitive, motor functions and autistic features.

Using high performance liquid chromatography, the team discovered that mice without the Mecp2 gene exhibited an alteration of DA metabolism at around five weeks of age, with increasing alteration as the disease progresses.

The also found that disturbances of norepinephrine and serotonin at the onset of the changes later stabilised.

As a result the scientists identified that the level of catecholamines and serotonin is differentially affected in Mecp2-/y brain areas in a time-dependent fashion.