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Congenital Heart Defects with GATA Transcription Factors. By: Ben Devenney Biochemistry 2007. Basic Facts . Congenital Heart Defects occurs in 5-8 out of every 1000 births- most common major birth defect 85% of those survive into adulthood

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basic facts
Basic Facts
  • Congenital Heart Defects occurs in 5-8 out of every 1000 births- most common major birth defect
  • 85% of those survive into adulthood
  • Approx 1 million adults in world today born with some sort of CHD.
  • Heart is first organ to form in body.
  • Primarily Genetic
various forms of chd
Various Forms of CHD
  • Heart Murmur
  • Atrial Septal Defect
  • Coarctation of the Aorta
  • Ventricular Septal Defect
  • Aortic Stenosis
  • Cardiac Malpositions (ex- heart on right side)
chd testing
CHD Testing
  • Physical Appearance
  • X-Ray
  • Electrocardiogram
  • Echocardiogram
  • Palpation
  • Arterial Pulse
causes of chd
Causes of CHD
  • Scientists still learning about heart formation and specific causes through Gene Targeting Experiments
  • Occurs in error of instructions given to the developmental cells.
  • GATA Family largely responsible for heart formation.
gata transcription factors
GATA Transcription Factors
  • 6 GATA factors, but GATA -4 is primary one found to cause heart defects.
  • GATA-4 regulates the second stage of cardiac development.
  • GATA proteins are part of zinc finger transcription factor.
  • Zinc Finger: a finger-shaped fold in a protein that permits it to interact with DNA and RNA. The fold is created by the binding of specific amino acids in the protein to a zinc atom.
gata 4
GATA-4
  • Found on Chromosome 8p23.1-p22
  • Impairs ventricular growth
  • Necessary for sequence specific DNA binding activity
  • Procardiomyocytes fail to migrate from anterior to dorsal region of the embryo to ventral midline to form linear heart tube.
  • “Forced expression on GATA-4 in P19 cells accelerate cardiogenesis and increased the number of cardiac myocytes”
  • On N-terminus of GATA-4, transcriptional activation domains identified (ADI and ADII)
  • Both AD’s contain Tyrosine and Serine residues meaning posttranslational modifications of GATA-4
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