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Current concepts in RET-related genetics, signaling and therapeutics

Ivan Plaza-Menacho1, Grzegorz M Burzynski, Jan Willem de Groot

  • 1Department of Genetics, University Medical Center Groningen, University of Groningen, Postbus 30 001, 9700 RB Groningen, The Netherlands.

Trends in Genetics : TIG
|September 19, 2006
PubMed

Insights

The RET receptor tyrosine kinase is vital for neural crest development. Its mutations cause developmental disorders like Hirschsprung disease and cancers such as multiple endocrine neoplasia type 2.

Area of Science:

  • Genetics
  • Developmental Biology
  • Oncology

Background:

  • The receptor tyrosine kinase RET is crucial for neural crest cell development, regulating proliferation, migration, differentiation, and survival.
  • Dysfunctional RET signaling is implicated in both developmental disorders and cancers.
  • Understanding RET's role is key to addressing these conditions.

Purpose of the Study:

  • To review the genetics and molecular mechanisms of inherited neural crest-related disorders linked to RET.
  • To explore the diverse roles of RET mutations in human diseases.
  • To discuss RET as a potential therapeutic target.

Main Methods:

  • Literature review of genetic and molecular studies on RET.
  • Analysis of RET's role in embryogenesis and disease pathogenesis.
  • Examination of therapeutic strategies targeting RET.

Main Results:

  • Germline and somatic RET mutations leading to overactivation cause multiple endocrine neoplasia type 2 and other tumors.
  • RET mutations causing nonfunctional receptors or reduced expression are associated with Hirschsprung disease.
  • RET signaling pathways are critical for neural crest development and homeostasis.

Conclusions:

  • RET gene mutations are central to the pathogenesis of various neural crest-derived disorders.
  • Targeting RET offers a promising therapeutic avenue for these conditions.
  • Further research into RET's molecular mechanisms can illuminate disease pathways.

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