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Rapid screen for truncating ATM mutations by PTT-ELISA.

Liutao Du1, Chih-Hung Lai, Patrick Concannon

  • 1Department of Pathology and Laboratory Medicine, The David Geffen School of Medicine at UCLA, CA 90095, United States.

Mutation Research
|March 7, 2008
PubMed
Summary

A new non-radioactive Protein Truncation Test (PTT-ELISA) effectively detects truncating mutations in the ataxia-telangiectasia mutated (ATM) gene. This rapid assay identifies mutations responsible for ataxia-telangiectasia (A-T) and is suitable for large genes.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Ataxia-telangiectasia (A-T) is an autosomal recessive disorder caused by mutations in the ATM gene.
  • Approximately 80% of ATM mutations lead to protein truncations, detectable by Protein Truncation Test (PTT).
  • Conventional PTT relies on radioactive labeling and SDS-PAGE, which are laborious and costly.

Purpose of the Study:

  • To develop a non-radioactive PTT (PTT-ELISA) for detecting truncating ATM mutations.
  • To evaluate the PTT-ELISA's efficiency in screening A-T patients.

Main Methods:

  • Developed a PTT-ELISA using N- and C-terminal epitopes (c-myc and V5) for detection via Sandwich ELISA.
  • Introduced epitopes into transcription/translation products of eight overlapping ATM gene fragments.

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  • Screened nine newly diagnosed A-T patients.

    • Main Results:

    • PTT-ELISA successfully detected 14 out of 14 identified truncating ATM mutations.
    • Four novel ATM mutations were identified.
    • The assay demonstrated high sensitivity in detecting truncating mutations.

    Conclusions:

    • PTT-ELISA is a rapid and effective method for detecting truncating mutations in large genes like ATM.
    • This non-radioactive assay offers an alternative to conventional PTT and direct sequencing.
    • PTT-ELISA should be considered as a preliminary screening tool for genetic disorders caused by truncating mutations.