Increased Risk of Hearing Loss Associated with MT-RNR1 Gene Mutations: A Real-World Investigation Among Han Taiwanese Population

Abstract Background: Previous studies have implicated inherited mutations in mitochondrial DNA (mtDNA) in sensorineural hearing loss. However, the definitive association between mitochondrial 12S rRNA (MT-RNR1) variants and hearing loss in the population has not been well established, particularly in Asia. The objective of this retrospective cohort study was to assess the association between MT-RNR1variants and the risk of hearing loss events in patients in Taiwan. Methods: We identified a cohort of 12,969 individuals, including 1,179 patients with MT-RNR1 variants, from the China Medical University Hospital Database between January 2003 and December 2020. These patients with MT-RNR1 variants were matched with a control group of 11,790 participants without such variants. The mean age of the mtDNA variants group is 32.4 years, with a standard deviation of 19.2 years. Results: The incidence density of hearing loss for the mutation group was 36.42 per 10,000 person-years (95% Confidence Interval [CI], 27.21-47.73), which was higher than the 23.77per 10,000 person-years (95% CI, 21.32-26.42) in the wild-type group (p<0.005). Additionally, diabetes mellitus was associated with an increased risk of developing sensorineural hearing loss in individuals with MT-RNR1 variants (adjusted hazard ratio=1.76 [95% CI, 1.00-3.09], p< 0.05). Conclusion: This study emphasizes the elevated risk of hearing loss events in patients with MT-RNR1 variants, especially those with co-existing disease. The findings highlight the necessity for strategies to prevent hearing loss events in this high-risk group, emphasizing early intervention and consideration of associated complications.