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The IgSF Cell Adhesion Protein CLMP and Congenital Short Bowel Syndrome (CSBS)

Fritz G Rathjen1, René Jüttner1

  • 1Max-Delbrück-Center for Molecular Medicine, Robert-Rössle-Str. 10, 13092 Berlin, Germany.

International Journal of Molecular Sciences
|March 29, 2023
PubMed

Insights

Congenital short-bowel syndrome (CSBS) involves defective intestinal growth and function due to CLMP gene mutations. This impacts gut peristalsis and ureter development, highlighting CLMP

Area of Science:

  • Cell Adhesion Molecules
  • Developmental Biology
  • Gastroenterology

Background:

  • Congenital short-bowel syndrome (CSBS) is a severe, incurable disease linked to the immunoglobulin-like cell adhesion molecule CLMP.
  • CLMP is a member of the CAR family of cell adhesion proteins, crucial for cell-cell interactions.
  • Understanding CLMP's role is vital for addressing CSBS and related developmental defects.

Purpose of the Study:

  • To review and compare findings from human CSBS patients and a mouse knockout model.
  • To elucidate the mechanisms underlying CSBS, focusing on intestinal development and function.
  • To investigate the impact of CLMP mutations on other organs, specifically the ureter.

Main Methods:

  • Comparative analysis of clinical data from human CSBS patients.
  • Evaluation of a mouse model lacking the CLMP gene (knockout model).
  • Examination of cellular and molecular changes in affected tissues, including smooth muscle layers and ureters.

Main Results:

  • CSBS is characterized by impaired intestinal elongation during embryonic development and uncoordinated peristalsis.
  • Reduced levels of connexin43 and connexin45 in intestinal smooth muscle contribute to disrupted calcium signaling via gap junctions.
  • CLMP absence also causes severe bilateral hydronephrosis in the ureter, linked to similar connexin43 reduction and signaling defects.

Conclusions:

  • CLMP is essential for proper intestinal development and coordinated smooth muscle function.
  • Defects in CLMP disrupt gap junction communication and calcium signaling, leading to CSBS and ureter abnormalities.
  • Further research into CLMP and connexin pathways may reveal therapeutic targets for CSBS and related conditions.

Keywords:
CLMPCSBScell adhesionfilamin Aintestinemalrotationsmooth muscle cells

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