- Human pathology

Home > A. Molecular pathology > MECP2


Friday 5 September 2003

Definition: MECP2 encodes a protein that binds to methylated DNA. MeCP2 protein bind methylated DNA and repress transcription.


- mutations of MECP2 in Rett syndrome

  • abnormal gene expression patterns within the first year of life.
  • Girls with Rett syndrome display reduced brain growth, loss of developmental milestones and profound mental disabilities.

Autism has been linked to the region on chromosome 15 that is responsible for Prader–Willi syndrome and Angelman syndrome.

Findings at autopsy of brain tissue from patients with autism have revealed deficiency in MECP2 expression that appears to account for reduced expression of several relevant genes.

These results suggest that MECP2 deficiency plays a role in chromosome organization in the developing brain in autism, Rett syndrome and several other neurodevelopmental disorders.

See also

- DNA methylation
- methyl-DNA-binding proteins


- Caballero IM, Hendrich B. MeCP2 in neurons: closing in on the causes of Rett syndrome. Hum Mol Genet. 2005 Apr 15;14 Spec No 1:R19-26. PMID: 15809268

- Kriaucionis S, Bird A. DNA methylation and Rett syndrome. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R221-7. Epub 2003 Aug 19. PMID: 12928486

- Dragich J, Houwink-Manville I, Schanen C. Rett syndrome: a surprising result of mutation in MECP2. Hum Mol Genet. 2000 Oct;9(16):2365-75. PMID: 11005791