Mitochondrial DNA mutations in exhaled breath condensate of patients with lung cancer

Yang Ai, Sylvia Si; Hsu, Kenneth; Herbert, Cristan; Cheng, Zujian; Hunt, John; Lewis, Craig R.; Thomas, Paul S.

doi:10.1016/j.rmed.2013.02.007

Cited by 52Mitochondrial Function and PathologyAdvanced Chemical Sensor TechnologiesCancer Genomics and Diagnostics

Mitochondrial DNA mutations in exhaled breath condensate of patients with lung cancer

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Yang Ai, Sylvia Si, Hsu, Kenneth, Herbert, Cristan, Cheng, Zujian, Hunt, John, Lewis, Craig R., Thomas, Paul S.·2013·Respiratory Medicine

DOI 10.1016/j.rmed.2013.02.007

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Abstract

Introduction Lung cancer is a leading cause of cancer mortality worldwide. Non-invasively collected biofluids such as exhaled breath condensate (EBC) present a potential sampling medium to detect and study pathological changes implicated in tumourigenesis. Mitochondrial DNA changes have been implicated in the carcinogenesis process. Consequently, the detection of mitochondrial changes in EBC could expand our understanding of lung carcinogenesis as well as identifying specific markers for future studies.Methods EBC and saliva was collected from newly diagnosed subjects with lung cancer and control subjects in a cross-sectional study. The EBC and saliva was analysed for mitochondrial DNA D-loop changes using a PCR sequencing approach. The sequences obtained were compared to paired salivary DNA and the revised Cambridge Reference Sequence (rCRS) to identify somatic mutations, and quantitative and qualitative differences in mutations were analysed between groups.Results A total of 25 subjects (9 NSCLC patients, 10 smokers/ex-smokers and 6 non-smokers) were recruited. A significantly elevated D-loop mutation rate in the lung cancer group compared to the control groups was present (7 vs 3.5 for smokers/ex-smokers, and 7 vs. 4 for non-smokers, p = 0.034). The recognised mutation T16217C showed specificity for lung cancer.Conclusions Mitochondrial DNA mutations are more common in the EBC of patients with lung cancer. This suggests that these processes are associated with the carcinogenesis of lung cancer and may be a marker of the disease.

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Nearly half of lung cancer patients have mutations in their mitochondrial DNA.
“Nearly half of lung cancer patients have mutations in their mitochondrial DNA (mt DNA).”
From Reactive Oxygen Species, Toxicity, Oxidative Stress, and Antioxidants: Chronic Diseases and Aging (2023) · cites this paper as Yang et al. 2013

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MtDNA depletions and deletions may also be important in pathogenesis of lung cancer
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Authors: Yang Ai, S. S., Hsu, K., Herbert, C., Cheng, Z., Hunt, J., Lewis, C. R., & Thomas, P. S.
Affiliations: UNSW Sydney (AU)
Prince of Wales Hospital (AU)
Corresponding author: Thomas, Paul S.
ORCID: Herbert, Cristan
Hunt, John
Lewis, Craig R.
Thomas, Paul S.
Venue: Respiratory Medicine
Publisher: Elsevier BV
Published: 2013-06
Volume: 107
Issue: 6
Pages: 911-918
ISSN: 0954-6111 (ISSN-L)
DOI: 10.1016/j.rmed.2013.02.007
OpenAlex: W1976091213
Cited by: 52
References: 47
Citations by year: 2026: 2 · 2025: 2 · 2024: 4 · 2023: 3 · 2022: 2 · 2021: 4 · 2020: 3 · 2019: 3 · 2018: 4 · 2017: 5 · 2016: 5 · 2015: 6 · 2014: 4 · 2013: 5
FWCI: 2.98
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 837 d)
Locations: Respiratory Medicine (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Physical Sciences › Engineering › Biomedical Engineering › Advanced Chemical Sensor Technologies
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
Keywords: lung cancer, exhaled breath condensate, mitochondrial DNA mutations, D-loop, non-small cell lung cancer, salivary DNA, non-invasive biomarkers, lung carcinogenesis, smokers
MeSH terms: Aged, Breath Tests, Carcinoma, Non-Small-Cell Lung, Cross-Sectional Studies, DNA Mutational Analysis, DNA, Mitochondrial, DNA, Neoplasm, Female, Humans, Lung Neoplasms, Male, Middle Aged, Mutation, Neoplasm Staging, Saliva, Smoking

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Mitochondrial DNA mutations in exhaled breath condensate of patients with lung cancer

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