NF1 Zebrafish and Mouse Vasculature

Mouse and zebrafish vasculature. Credit: Jonathan Epstein, MD.

Neurofibromatosis type I (NF1), also known as von Recklinghausen disease, is one of the most common inherited genetic disorders in humans. Symptoms include curvature of the spine, skin spots, learning difficulties, epilepsy, as well as cardiovascular problems. Researchers led by Jonathan Epstein, MD, Chairman of Penn's Department of Cell and Developmental Biology and Scientific Director of the Penn Cardiovascular Institute, developed a zebrafish model for NF1, which will advance the ability to perform high-throughput chemical screening for new compounds that may one day become treatments. They recently published their findings in the Proceedings of the National Academy of Sciences.

Because zebrafish develop rapidly, are transparent when young, and can be easily bred in large numbers, this new animal model will dramatically increase the screening capacity, notes Epstein. In addition, scientists will be able to identify other genes and molecular pathways that affect disease progression by performing genetic screens in the model. These discoveries will provide new opportunities for drug development for NF1.

 

This story appears in Penn Medicine's Basic Science News Bites (December 2009). Also in this edition:

  • Orthopaedics Research
  • picThrowing Their Backs into Regenerative Medicine
  • In order for tissue grown in the lab to replace damaged or diseased tissue in the body, it needs to withstand complex mechanical loads – large forces regularly experienced over a lifetime of daily activities.
  • Cell Biology
  • picCheating a Cell's Demise
  • The lifespan of normal human cells is determined in part by telomeres – the DNA-protein structures that cap the beginnings and ends of chromosomes.
  • Neuroscience Research
  • picPrion-Busting Cocktails
  • Prions are proteins that act like germs, infecting healthy tissue and causing havoc in the body. Their extreme stability and shape-shifting abilities make prions exceptionally difficult drug targets.
  • Diabetes Research
  • picNew Insights on Insulin Resistance
  • The overwhelming majority of type 2 diabetics are insulin resistant, which means their bodies are unable to respond to and use the insulin they produce.
  • Genetics Research
  • picZebrafish Model of Common Genetic Disorder
  • Because zebrafish develop rapidly, are transparent when young, and can be easily bred in large numbers, this new animal model will dramatically increase the screening capacity for a common human inherited disorder.

 

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