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

doi:10.1111/exd.13765

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

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3 Citations (Scopus)

Abstract

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 language	English
Pages (from-to)	1304-1308
Number of pages	5
Journal	Experimental dermatology
Volume	27
Issue number	11
DOIs	https://doi.org/10.1111/exd.13765
Publication status	Published - 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.

Funding Information:
R&D Convergence Program, Grant/ Award Number: CAP-16-03-KRIBB, and International Cooperation Research Program of National Research Council of Science & Technology (NST) of Republic of Korea; Bio and Medical Technology Development Program, Grant/Award

Funding Information:
Number: NRF-2014M3A9B5073938; Basic Science Research Program, Grant/Award Number: MRC (2017R1A5A2015541) and NRF-2016R1A2B3011389; the Ministry of Science and ICT (MSIT) of Korea; KRIBB Research Initiative Program

Publisher Copyright:
© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Dermatology

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10.1111/exd.13765

Cite this

Hwang, J., Lee, S., Kim, D., Han, G., Soung, N. K., Cha-Molstad, H., Lee, K. H., Ryoo, I. J., Ahn, M. J., Kim, S. T., Lee, M. J., Yoo, Y. D., Lee, H. G., Hong, J. T., Kim, H., Choi, E. H., Kim, S. C., Kwon, Y. T., Ahn, J. S., & Kim, B. Y. (2018). Peptide nucleic acid (PNA) probe-based analysis to detect filaggrin mutations in atopic dermatitis patients. Experimental dermatology, 27(11), 1304-1308. https://doi.org/10.1111/exd.13765

@article{26245c5a5d4147e08dd3b6ecf7a0643a,

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

abstract = "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.",

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

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. Funding Information: R&D Convergence Program, Grant/ Award Number: CAP-16-03-KRIBB, and International Cooperation Research Program of National Research Council of Science & Technology (NST) of Republic of Korea; Bio and Medical Technology Development Program, Grant/Award Funding Information: Number: NRF-2014M3A9B5073938; Basic Science Research Program, Grant/Award Number: MRC (2017R1A5A2015541) and NRF-2016R1A2B3011389; the Ministry of Science and ICT (MSIT) of Korea; KRIBB Research Initiative Program Publisher Copyright: {\textcopyright} 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd",

year = "2018",

month = nov,

doi = "10.1111/exd.13765",

language = "English",

volume = "27",

pages = "1304--1308",

journal = "Experimental Dermatology",

issn = "0906-6705",

publisher = "Wiley-Blackwell",

number = "11",

}

Hwang, J, Lee, S, Kim, D, Han, G, Soung, NK, Cha-Molstad, H, Lee, KH, Ryoo, IJ, Ahn, MJ, Kim, ST, Lee, MJ, Yoo, YD, Lee, HG, Hong, JT, Kim, H, Choi, EH , Kim, SC, Kwon, YT, Ahn, JS & Kim, BY 2018, 'Peptide nucleic acid (PNA) probe-based analysis to detect filaggrin mutations in atopic dermatitis patients', Experimental dermatology, vol. 27, no. 11, pp. 1304-1308. https://doi.org/10.1111/exd.13765

TY - JOUR

T1 - Peptide nucleic acid (PNA) probe-based analysis to detect filaggrin mutations in atopic dermatitis patients

AU - Hwang, Joonsung

AU - Lee, Sangku

AU - Kim, Daehwan

AU - Han, Goeun

AU - Soung, Nak Kyun

AU - Cha-Molstad, Hyunjoo

AU - Lee, Kyung Ho

AU - Ryoo, In Ja

AU - Ahn, Mi Ja

AU - Kim, Sung Tae

AU - Lee, Min Jae

AU - Yoo, Young Dong

AU - Lee, Hee Gu

AU - Hong, Jin Tae

AU - Kim, Hyunjung

AU - Choi, Eung Ho

AU - Kim, Soo Chan

AU - Kwon, Yong Tae

AU - Ahn, Jong Seog

AU - Kim, Bo Yeon

N1 - 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. Funding Information: R&D Convergence Program, Grant/ Award Number: CAP-16-03-KRIBB, and International Cooperation Research Program of National Research Council of Science & Technology (NST) of Republic of Korea; Bio and Medical Technology Development Program, Grant/Award Funding Information: Number: NRF-2014M3A9B5073938; Basic Science Research Program, Grant/Award Number: MRC (2017R1A5A2015541) and NRF-2016R1A2B3011389; the Ministry of Science and ICT (MSIT) of Korea; KRIBB Research Initiative Program Publisher Copyright: © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd

PY - 2018/11

Y1 - 2018/11

N2 - 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.

AB - 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.

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U2 - 10.1111/exd.13765

DO - 10.1111/exd.13765

M3 - Article

C2 - 30092122

AN - SCOPUS:85053377951

VL - 27

SP - 1304

EP - 1308

JO - Experimental Dermatology

JF - Experimental Dermatology

SN - 0906-6705

IS - 11

ER -

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

Abstract

Bibliographical note

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