4.2 Article

Improvement of a Rapid and Highly Sensitive Method for the Diagnosis of the Mitochondrial m.1555A>G Mutation Based on a Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip

Journal

GENETIC TESTING AND MOLECULAR BIOMARKERS
Volume 25, Issue 1, Pages 79-83

Publisher

MARY ANN LIEBERT, INC
DOI: 10.1089/gtmb.2020.0105

Keywords

aminoglycoside antibiotics; hearing loss; mitochondria; rapid companion diagnostic

Funding

  1. Health and Labor Sciences Research Grant for Research on Rare and Intractable Diseases and Comprehensive Research on Disability Health and Welfare from the Ministry of Health, Labour and Welfare of Japan [S.U. H29-Nanchitou (Nan)-Ippan-031]
  2. Japan Agency for Medical Research and Development (AMED) [S.U. 16kk0205010h0001, 18ek0109363h0001]

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The study presented an improved genotyping method for the m.1555A>G mutation, demonstrating high sensitivity and specificity with the newly developed STH-PAS method. This diagnostic tool could be useful as a rapid companion diagnostic before aminoglycoside use.
Aims: Pathogenic variants in mitochondrial DNA are known to be associated with sensorineural hearing loss (SNHL) and aminoglycoside-induced HL. Among them, the m.1555A>G mutation is the most common. Thus, a rapid and easy companion diagnostic method for this mutation would be desirable to prevent HL caused by aminoglycoside therapy. In this study, we report an improved protocol for the single-stranded tag hybridization chromatographic printed-array strip (STH-PAS) method for identifying the m.1555A>G mutation. Methods: To evaluate the accuracy of a novel diagnostic for the m.1555A>G mutation we analyzed 378 DNA samples with or without the m.1555A>G mutation, as determined by Invader assay, and calculated the sensitivity, specificity, and false negative and false positive ratios of this new method. Results: The newly developed protocol was robust; we, obtained the same results using multiple DNA concentrations, differing annealing temperatures, and different polymerase chain reaction thermal cyclers. The diagnostic sensitivity based on the STH-PAS method was 0.99, and the specificity was 1.00. The false negative and false positive ratios were 0 and 0.01, respectively. Conclusion: We improved the genotyping method for m.1555A>G mutations. This assays will be useful as a rapid companion diagnostic before aminoglycoside use.

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