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Updated: Dec 26, 2025

Utilizing Murine Inducible Telomerase Alleles in the Studies of Tissue Degeneration/Regeneration and Cancer
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Utilizing Murine Inducible Telomerase Alleles in the Studies of Tissue Degeneration/Regeneration and Cancer

Published on: April 13, 2015

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TERT and TERC mutations detected in cryptic dyskeratosis congenita suppress telomerase activity

Kazuki Terada1,2, Koichi Miyake1, Hiroki Yamaguchi2

  • 1Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan.

International Journal of Laboratory Hematology
|March 10, 2020
PubMed
Abstract

Insights

Mutations in TERT and TERC genes in cryptic dyskeratosis congenita (cDKC) reduce telomerase activity, potentially causing the disease. Mutations found in typical DKC did not impact telomerase activity.

Area of Science:

  • Genetics and Molecular Biology
  • Hematology

Background:

  • Cryptic dyskeratosis congenita (cDKC) presents gradually and is diagnosed via telomere length and gene mutation analysis.
  • TERT and TERC gene mutations are common in Japanese cDKC patients.

Purpose of the Study:

  • To investigate the functional impact of TERT and TERC mutations found in cDKC and DKC on telomerase activity.

Main Methods:

  • Transfection of TERT and TERC mutants into Saos-2 or VA13+TERT cells.
  • Measurement of telomerase activity in transfected cells.

Main Results:

  • Mutations found in cDKC significantly reduced telomerase activity compared to wild-type.
  • Specific TERT mutations (p.P632R, p.T726M) showed less suppression of telomerase activity than others (p.G106W, p.G682D).
  • TERT or TERC mutations found in typical DKC did not significantly alter telomerase activity.

Conclusions:

  • TERT and TERC mutations in cDKC may impair telomerase activity, contributing to disease pathogenesis.
  • Telomerase activity analysis of mutants is not consistently useful for diagnosing typical DKC.
Keywords:
TERCTERTdyskeratosis congenitamutation

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