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The RET receptor: function in development and dysfunction in congenital malformation

S Manié1, M Santoro, A Fusco

  • 1Laboratoire de Génétique, CNRS UMR 5641, Domaine Rockefeller, 8 avenue Rockefeller, 69373 Cedex 08, Lyon, France.

Trends in Genetics : TIG
|October 5, 2001
PubMed

Insights

Germline mutations in the RET gene cause Hirschsprung disease and MEN2. This review details RET signaling, crucial for development, and its role in these disorders.

Area of Science:

  • Genetics
  • Developmental Biology
  • Oncology

Background:

  • The RET proto-oncogene is implicated in neural crest disorders and cancer.
  • RET encodes a receptor tyrosine kinase vital for neural and kidney development.
  • Dysregulation of RET signaling contributes to disease pathogenesis.

Purpose of the Study:

  • To review the molecular mechanisms of RET activation.
  • To elucidate the role of RET signaling in development.
  • To connect RET signaling dysfunction to Hirschsprung disease.

Main Methods:

  • Review of existing literature on RET gene mutations and signaling pathways.
  • Analysis of RET's role in neural crest development.
  • Examination of RET's involvement in Hirschsprung disease and MEN2.

Main Results:

  • Germline RET mutations cause Hirschsprung disease and multiple endocrine neoplasia type 2 (MEN2).
  • Somatic RET rearrangements are involved in papillary thyroid carcinoma.
  • RET signaling is essential for neural and kidney development.

Conclusions:

  • Understanding RET activation provides insights into developmental disorders.
  • RET signaling pathways are critical targets for therapeutic strategies.
  • This review highlights the multifaceted role of RET in health and disease.

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