Like many other people, we expected that giving MECP2
to mice that were already sick would not work," said Bird.
grabs onto DNA, it can limit the activity of genes to which it attaches.
Michele did not know she carried a genetic disorder MECP2
About the Rett Syndrome Research Trust - The Rett Syndrome Research Trust is a non-profit exclusively devoted to global research on Rett Syndrome and related MECP2
We measured mRNA levels Svs4, Ltf, Pgr (progesterone receptor), Stat3, Stat5a, DNMT1, DNMT3A, DNMT3B, MeCP2
, MBD2, MBD3, HDAC1, and HDAC2 using SYBR green assays (Applied Biosystems, Foster City, CA).
Mandel said that gene therapy is well suited for this disorder, as MECP2
binds to DNA throughout the genome, there is no single gene currently that we can point to and target with a drug.
Blake McMillan was diagnosed with MeCP2
duplication syndrome three weeks after his birth on March 21 last year.
Ms Bloom said testing on mice at the University of Edinburgh in 2007 proved the condition can be reversed by restoring levels of the protein Mecp2
Thus, in an examination of Rett Syndrome research in humans and mice, the symbols MeCP2
, and Mecp2
are used prolifically.
Mutations in the MeCP2
gene and, consequently, the resulting protein that alter transcription of the gene encoding BDNF and affect synaptic plasticity are thought to underlie a neurodevelopmental disorder, Rett syndrome (Chahrour and Zoghbi 2007; Chang et al.
Gross rearrangements of the MECP2
gene are found in both classical and atypical Rett syndrome patients.
We use examples of assays that were developed for the MECP2
and the SMAD4 genes to demonstrate specific challenges associated with the validation of DNA sequencing assays.