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

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Peptide nucleic acid (PNA) probe-based analysis to detect filaggrin mutations in atopic dermatitis patients
Joonsung HwangSangku Lee; Daehwan Kim; Goeun Han; Nak Kyun SoungHyunjoo Cha-MolstadKyung Ho LeeIn Ja Ryoo; Mi Ja Ahn; S T Kim; M J Lee; Y D Yoo; Hee Gu Lee; J T Hong; H Kim; E H Choi; S C Kim; Y T Kwon; Jong Seog Ahn; Bo Yeon Kim
Bibliographic Citation
Experimental Dermatology, vol. 27, pp. 1304-1308
Publication Year
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.
Filaggrin mutationPeptide Nucleic Acid (PNA)atopic dermatitishigh-throughput screeningmedical diagnosis
Appears in Collections:
Ochang Branch Institute > Chemical Biology Research Center > 1. Journal Articles
Ochang Branch Institute > Nucleic Acid Therapeutics Research Center > 1. Journal Articles
Division of Biomedical Research > Immunotherapy Research Center > 1. Journal Articles
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