The Frequency of Mitochondrial Gene Point Mutations in Korean Non-syndromic Sensorineural Hearing Loss.
- Author:
Han Sin JEONG
1
;
Mun Jung LIM
;
Sun O CHANG
;
Chong Sun KIM
;
Seung Ha OH
Author Information
1. Department of Otorhinolaryngology-Head and Neck Surgery, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
Sensorineural hearing loss;
Mitochondria;
Point mutation
- MeSH:
Asian Continental Ancestry Group;
DNA, Mitochondrial;
Genes, Mitochondrial*;
Hearing;
Hearing Loss;
Hearing Loss, Sensorineural*;
Humans;
Korea;
Mitochondria;
Outpatients;
Point Mutation*;
Polymorphism, Restriction Fragment Length;
Sequence Analysis
- From:Korean Journal of Otolaryngology - Head and Neck Surgery
2004;47(3):206-211
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
BACKGROUND AND OBJECTIVES: Mitochondrial point mutations have been shown to be responsible for syndromic and non-syndromic hearing impairment. Among these mitochondrial point mutations, 1555 A-->G, 3243 A-->G, and 7445 A-->G mutations are detected more frequently in sensorineural hearing loss (SNHL). In the present study, we evaluated the frequency of these three mitochondrial mutations among the non-syndromic SNHL population in Korea. SUBJECTS AND METHOD: To determine the frequency of three mitochondrial point mutation 1555 A-->G, 3243 A-->G, and 7445 A-->G, we examined 129 unrelated SNHL outpatients using restriction fragment length polymorphism. And to confirm these point mutations, we analyzed mitochondrial DNA with point mutations by direct sequence analysis. RESULTS: The frequency of mitochondrial gene mutation in the unrelated sensorineural hearing impaired patients in the Korean population was 1555 A-->G: 2.3% (3/129), 3243 A-->G: 0.7% (1/129), 7445 A-->G: 0% (0/129). CONCLUSION: These results regarding Koreans are similar to those of Japanese. Each member in a family with 1555 A-->G mitochondrial point mutation had variable hearing levels (different phenotype) in spite of the same mitochondrial point mutation. The pathogenesis of these mitochondrial point mutations in hearing should be further investigated and a study should be performed using large number of families and functional experiments to elucidate the meaning of these point mutations.
