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Alagille syndrome: Genetics and Functional Models.

Melissa A Gilbert1, Nancy B Spinner1

  • 1Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

Current Pathobiology Reports
|December 23, 2017
PubMed
Summary

Alagille syndrome is a genetic disorder caused by mutations in JAG1 or NOTCH2. Advances in functional models offer new avenues for developing novel gene therapies and treatments for patients.

Keywords:
Alagille syndromeJagged1Notch2gene therapyhaploinsufficiencyliver disease

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Area of Science:

  • Genetics
  • Developmental Biology
  • Molecular Biology

Background:

  • Alagille syndrome is an autosomal dominant, multi-system disorder.
  • It affects multiple organs including the liver, heart, vasculature, and kidneys.
  • The disorder is primarily caused by mutations in JAG1 or NOTCH2, which are key components of the Notch signaling pathway.

Purpose of the Study:

  • To review the genetics of Alagille syndrome.
  • To summarize how current functional models and emerging biotechnologies can guide the development of novel therapies.
  • To emphasize the role of haploinsufficiency as a disease mechanism.

Main Methods:

  • Review of current literature on Alagille syndrome genetics.
  • Assessment of existing and emerging functional models (animal models, in vitro cell culture, human induced pluripotent stem cells).
  • Analysis of biotechnologies applicable to studying disease mechanisms and manifestations.

Main Results:

  • Alagille syndrome results from mutations in JAG1 or NOTCH2, affecting the Notch signaling pathway.
  • Advanced functional models, including iPSCs, offer new opportunities to study disease mechanisms.
  • Haploinsufficiency is a significant disease mechanism in Alagille syndrome.

Conclusions:

  • Innovative functional models will enable testing of novel gene therapies and small molecule treatments.
  • These models provide physiologically relevant systems for therapeutic development.
  • Advances are expected to lead to new treatment methods for Alagille syndrome patients.