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SUMMARY:Genetic and epigenetic alterations in patients with congenital hea
 rt disease - Prof Silke Sperling\, MDC\, Berlin\, Germany
DTSTART:20150512T130000Z
DTEND:20150512T140000Z
UID:TALK56748@talks.cam.ac.uk
CONTACT:Katja Kivinen
DESCRIPTION:An overview of regulatory circuits establishing the cardiac tr
 anscriptome will be shown. A particular focus is the interaction between d
 ifferent molecular levels\, involving epigenetic\, transcriptional and pos
 t-transcriptional mechanisms. \n\nBeside the study of mouse models\, we ap
 ply high-throughput technology to gain insights into congenital heart dise
 ase with a particular interest on Tetralogy of Fallot (ToF). More than ten
  years ago we provided the first genome-wide expression profiles of normal
  and diseased human hearts. More recently\, we showed that ToF is an oligo
 genetic disorder and most interestingly mutated genes are key factor of SH
 F differentiation\, and we predict that impaired differentiation and proli
 feration capacity of SHF progenitors is one main impact on the dys-develop
 ed. \n\nIn addition\, we just conducted a genome-wide study of DNA methyla
 tion alteration. We linked DNA methylation with genome-wide expression dat
 a and found a significant overlap for hypermethylated promoters and down-r
 egulated genes\, and vice versa. Among the differentially methylated genes
  with distinct expression changes are the sarcomeric component TNNI1\, the
  co-receptor TDGF1\, the endothelin converting enzyme ECE2\, and the cytoc
 hrome C oxidase assembly protein SCO2. Moreover\, we found examples of met
 hylation changes co-localized with novel\, differential splicing events am
 ong sarcomeric genes. \n\nFinally\, we demonstrate the interaction of diff
 erentially methylated and expressed genes in TOF with mutated CHD genes in
  a molecular network. In order to perform functional follow up studies\, w
 e currently apply human iPSCs technology and their differentiation to card
 iomyocytes
LOCATION:Kendrew Lecture Theatre\, EBI\, Hinxton\, CB10 1SD
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