Evaluation of MASSARRAY technique in detecting mitochondrial disease mutations
1
Issued Date
2026-03-01
Resource Type
ISSN
00098981
eISSN
18733492
Scopus ID
2-s2.0-105027459278
Pubmed ID
41525965
Journal Title
Clinica Chimica Acta
Volume
583
Rights Holder(s)
SCOPUS
Bibliographic Citation
Clinica Chimica Acta Vol.583 (2026)
Suggested Citation
Chetu N., Onsod P., Rerkamnuaychoke B., Siriboonpiputtana T., Chareonsirisuthigul T. Evaluation of MASSARRAY technique in detecting mitochondrial disease mutations. Clinica Chimica Acta Vol.583 (2026). doi:10.1016/j.cca.2026.120820 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/114490
Title
Evaluation of MASSARRAY technique in detecting mitochondrial disease mutations
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Corresponding Author(s)
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Abstract
Mitochondrial diseases are caused by mutations in mitochondrial DNA (mtDNA), leading to impaired energy production, cellular dysfunction, and tissue damage. Accurate and efficient detection of mitochondrial DNA (mtDNA) mutations is crucial for diagnosis and patient management. This study aimed to evaluate the performance of MassARRAY in detecting mtDNA mutations compared to the routinely used MLPA technique. 34 EDTA blood samples from patients with suspected mitochondrial disorders were analyzed using MassARRAY and MLPA methods. MassARRAY was customized to detect 14 mtDNA loci, while MLPA targeted six fixed genetic loci. Both techniques detected five positive cases: three with the m.11778G > A mutation (8.82%) and two with the m.14484 T > C mutation (5.88%). Additionally, MassARRAY uniquely identified the m.12026 A > G mutation and a heteroplasmic m.12258C > A variant (2.94%). MassARRAY also demonstrated advantages in terms of rapid turnaround time (approximately 8 h) and assay flexibility. In conclusion, MassARRAY offers a highly accurate and efficient alternative for detecting mtDNA mutations, with the added benefit of customizable probes. However, sequencing confirmation is recommended for broader mutation coverage.