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Abstract

April-June 2017 | Vol. 10 | Issue 2 | Page No 20-21
Myth Unmethylated: Novel Therapies for Methylation-Related Neurodevelopmental Disorders
Shivani Mishra
Department of Medical Genetics, Sanjay Gandhi Post graduate Institute of Medical Sciences, Lucknow, India
Address for Correspondence Email: drshivani2005@gmail.com
 
Abstract
Fragile X syndrome (FXS) is a CGG-repeat disorder of the FMR1 gene caused by epigenetic gene silencing. In the presence of the elongated CGG repeat, epigenetic modifying drugs result in only transient FMR1 reactivation. CRISPR/Cas9 genome editing was used to excise the expanded CGG-repeat in both somatic cell hybrids containing the human fragile X chromosome and human FXS iPS cells. Transcriptional reactivation was observed in approximately 67% of the CRISPR cut hybrid colonies and in 20% of isolated human FXS iPSC colonies. The reactivated cells produced fragile X mental retardation protein (FMRP) and exhibited a decrease in DNA methylation at the FMR1 locus.
 
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