| Biogenic amines in Rett syndrome: the usual suspects. | |
| | |
MedLine Citation:
|
PMID: 19851857 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Rett syndrome (RTT) is a severe postnatal neurological disorder caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene. In affected children, most biological parameters, including brain structure, are normal (although acquired microcephaly is usually present). However, in recent years, a deficit in bioaminergic metabolism has been identified at the cellular and molecular levels, in more than 200 patients. Recently available transgenic mouse strains with a defective Mecp2 gene also show abnormalities, strongly suggesting that there is a direct link between the function of the MECP2 protein and the metabolism of biogenic amines. Biogenic amines appear to have an important role in the pathophysiology of Rett syndrome, for several reasons. Firstly, biogenic amines modulate a large number of autonomic and cognitive functions. Secondly, many of these functions are affected in RTT patients. Thirdly, biogenic amines are the only neurotransmitters that have repeatedly been found to be altered in RTT patients. Importantly, pharmacological interventions can be envisaged to try to counteract the deficits observed. Here, we review the available human and mouse data and present how they have been and could be used in the development of pharmacological treatments for children affected by the syndrome. Given our current knowledge and the tools available, modulating biogenic amine metabolism may prove to be the most promising strategy for improving the life quality of Rett syndrome patients in the short term. |
| | |
Authors:
|
Jean-Christophe Roux; Laurent Villard |
Related Documents
:
|
18615337 - Triple a syndrome mimicking als. 22604847 - The postcall syndrome. 15579037 - Renal neoplasia in the hyperparathyroidism-jaw tumor syndrome. 17618517 - An association of hutchinson-gilford progeria and malignancy. 18615337 - Triple a syndrome mimicking als. 19804087 - Short qt syndrome. |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2009-10-23 |
Journal Detail:
|
Title: Behavior genetics Volume: 40 ISSN: 1573-3297 ISO Abbreviation: Behav. Genet. Publication Date: 2010 Jan |
Date Detail:
|
Created Date: 2010-01-29 Completed Date: 2010-04-02 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0251711 Medline TA: Behav Genet Country: United States |
Other Details:
|
Languages: eng Pagination: 59-75 Citation Subset: IM |
Affiliation:
|
Inserm, U910, 27 bd. Jean Moulin, 13385 Marseille Cedex 5, France. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adolescent Adult Amines / metabolism* Animals Child Child, Preschool Clinical Trials as Topic Humans Infant Methyl-CpG-Binding Protein 2 / genetics* Mice Mice, Transgenic Models, Biological Rett Syndrome / diagnosis*, metabolism*, pathology |
| Chemical | |
Reg. No./Substance:
|
0/Amines; 0/MECP2 protein, human; 0/Mecp2 protein, mouse; 0/Methyl-CpG-Binding Protein 2 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: From mental disorder to iatrogenic hypogonadism: dilemmas in conceptualizing gender identity variant...
Next Document: Screening for clonal hematopoiesis as a predictive marker for development of therapy-related myeloid...