Peptide nucleic acid (PNA) probe-based analysis to detect filaggrin mutations in atopic dermatitis patients

Joonsung Hwang, Sangku Lee, Daehwan Kim, Goeun Han, Nak Kyun Soung, Hyunjoo Cha-Molstad, Kyung Ho Lee, In Ja Ryoo, Mi Ja Ahn, Sung Tae Kim, Min Jae Lee, Young Dong Yoo, Hee Gu Lee, Jin Tae Hong, Hyunjung Kim, Eung Ho Choi, Soo Chan Kim, Yong Tae Kwon, Jong Seog Ahn, Bo Yeon Kim

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


Atopic dermatitis (AD) is a chronic inflammatory skin disease whose prevalence is increasing worldwide. Filaggrin (FLG) is essential for the development of the skin barrier, and its genetic mutations are major predisposing factors for AD. In this study, we developed a convenient and practical method to detect FLG mutations in AD patients using peptide nucleic acid (PNA) probes labelled with fluorescent markers for rapid analysis. Fluorescence melting curve analysis (FMCA) precisely identified FLG mutations based on the distinct difference in the melting temperatures of the wild-type and mutant allele. Moreover, PNA probe-based FMCA easily and accurately verified patient samples with both heterozygote and homozygote FLG mutations, providing a high-throughput method to reliable screen AD patients. Our method provides a convenient, rapid and accurate diagnostic tool to identify potential AD patients allowing for early preventive treatment, leading to lower incidence rates of AD, and reducing total healthcare expenses.

Original languageEnglish
Pages (from-to)1304-1308
Number of pages5
JournalExperimental dermatology
Issue number11
Publication statusPublished - 2018 Nov

Bibliographical note

Funding Information:
This work was supported by the R&D Convergence Program (CAP-16-03-KRIBB, BY Kim) and the International Cooperation Research Program (JS Ahn) of National Research Council of Science & Technology (NST) of Republic of Korea. This work was also supported by the Bio and Medical Technology Development Program (NRF-2014M3A9B5073938, BY Kim), the Basic Science Research Program (NRF-2016R1A2B3011389, YT Kwon), and MRC (2017R1A5A2015541, JT Hong) of the Ministry of Science and ICT (MSIT) of Korea, and KRIBB Research Initiative Program. We thank Mr. Molstad M. for his support in manuscript proofreading.

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Dermatology

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