Rapid mass screening method and counseling for the 1555A-->G mitochondrial mutation
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Updated: Oct 19, 2026
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
1Department of Otorhinolaryngology, Hirosaki University School of Medicine, Japan. usami@hsp.md.shinshu-u.ac.jp
Abstract:
The 1555A-->G point mutation is associated with a susceptibility to aminoglycoside antibiotics, and is of particular interest, as it may cause hearing loss even without aminoglycoside exposure. There may be a considerably large high-risk population in Japan, and to avoid possible side effects in this group, a rapid mass screening system and careful counseling are recommended. We are currently using the mutant allele specific amplification (MASA) method to detect the 1555A-->G mitochondrial mutation and we distribute a warning card to subjects found to bear this mutation.
Insights
A specific gene mutation (1555A-->G) can cause hearing loss, even without drug exposure. Rapid screening and counseling are recommended for the high-risk Japanese population to prevent potential side effects.
Area of Science:
- Genetics
- Pharmacogenomics
- Otolaryngology
Background:
- The 1555A-->G mitochondrial DNA mutation is linked to aminoglycoside antibiotic susceptibility.
- This mutation may independently cause non-syndromic hearing loss, irrespective of drug exposure.
- A significant population in Japan may be at risk due to this mutation.
Purpose of the Study:
- To highlight the risk of hearing loss associated with the 1555A-->G mutation.
- To emphasize the need for targeted screening and counseling in susceptible populations.
- To describe the current method for detecting the mutation.
Main Methods:
- Mutant allele specific amplification (MASA) method was employed.
- Detection of the 1555A-->G mitochondrial mutation.
Main Results:
- The 1555A-->G mutation confers susceptibility to aminoglycosides.
- The mutation can lead to hearing loss without aminoglycoside exposure.
- A substantial high-risk population exists in Japan.
Conclusions:
- Rapid mass screening for the 1555A-->G mutation is recommended for the Japanese population.
- Careful genetic counseling is advised for individuals identified with the mutation.
- Warning cards are distributed to carriers to mitigate risks.
