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Updated: Nov 26, 2025

Isolation of Whole Cell Protein Lysates from Mouse Facial Processes and Cultured Palatal Mesenchyme Cells for Phosphoprotein Analysis
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PTRH2: an adhesion regulated molecular switch at the nexus of life, death, and differentiation

Austin D Corpuz1,2, Joe W Ramos1, Michelle L Matter3

  • 1Cancer Biology Program, University of Hawaii Cancer Center, Honolulu, 96813, HI, USA.

Cell Death Discovery
|December 10, 2020
PubMed

Insights

Peptidyl-tRNA hydrolase 2 (PTRH2) mutations cause Infantile-onset Multisystem Nervous, Endocrine, and Pancreatic Disease (IMNEPD). Conversely, PTRH2 promotes cancer malignancy and metastasis by regulating cell survival and differentiation signaling pathways.

Area of Science:

  • Cellular Biology
  • Molecular Biology
  • Genetics

Background:

  • Peptidyl-tRNA hydrolase 2 (PTRH2) regulates adhesion signals and Bcl2 expression, impacting muscle differentiation and integrin signaling.
  • Loss-of-function mutations in PTRH2 cause Infantile-onset Multisystem Nervous, Endocrine, and Pancreatic Disease (IMNEPD), a severe genetic disorder.
  • PTRH2 acts as an oncogene in cancer, promoting malignancy and metastasis.

Purpose of the Study:

  • To review the current understanding of PTRH2's role in cell survival, anoikis, and differentiation.
  • To discuss the implications of PTRH2 gene mutations in IMNEPD.
  • To explore PTRH2's involvement in various cancers and associated signaling pathways.

Main Methods:

  • Literature review of studies on PTRH2 structure, function, and disease association.
  • Analysis of signaling pathways modulated by PTRH2, including PI3K/AKT and ERK.
  • Examination of PTRH2's role in cell survival, growth, and differentiation in both disease and cancer contexts.

Main Results:

  • PTRH2 mutations lead to severe skeletal muscle, endocrine, and nervous system defects.
  • PTRH2 influences cell survival, growth, and differentiation through modulation of PI3K/AKT and ERK pathways.
  • PTRH2 is implicated in the progression of breast, lung, and esophageal cancers.

Conclusions:

  • PTRH2 is a critical regulator of cellular processes with dual roles in genetic disease and cancer.
  • Further research into PTRH2 is warranted for potential therapeutic strategies.
  • Understanding PTRH2's signaling network is key to addressing IMNEPD and cancer pathologies.

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