You don't need to be signed in to read BMJ Blogs, but you can register here to receive updates about other BMJ products and services via our site.

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome

8 Oct, 11 | by hqqu

Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder associated to mental retardation and caused by mutations in the genes CREBBP and EP300 encoding for the transcriptional regulators CBP and p300, respectively. These proteins regulate the acetylation state of the chromatin and consequently affect gene expression. Previous studies have shown that neuronal histone acetylation is reduced in mouse models of RSTS. In this article, Lopez-Atalaya and colleagues identify a number of new mutations into the CREBBP gene associated to RSTS widening the spectrum of mutations associated to this disorder and investigate for possible histone acetylation deficits in lymphoblastoid cell lines derived from some of these patients. The confirmation of the existence of similar biochemical deficits in cell lines from patients and mouse models of the disease and the efficacy of HDAC inhibitors to reverse these deficits opens new therapeutic possibilities.  (By Dr. Angel Barco, )

By submitting your comment you agree to adhere to these terms and conditions
You can follow any responses to this entry through the RSS 2.0 feed.
JMG blog homepage

JMG Contact

Research developments and evidence-based medical genetics. Visit site

Creative Comms logo

Latest from Journal of Medical Genetics

Latest from Journal of Medical Genetics