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Prevalence and Clinical Characteristics of Mitochondrial DNA Mutations in Korean Patients With Sensorineural Hearing Loss.
Joo, Sun Young; Jang, Seung Hyun; Kim, Jung Ah; Kim, Se Jin; Kim, Bonggi; Kim, Hye-Youn; Choi, Jae Young; Gee, Heon Yung; Jung, Jinsei.
Afiliación
  • Joo SY; Department of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Korea.
  • Jang SH; Won-Sang Lee Institute for Hearing Loss, Seoul, Korea.
  • Kim JA; Department of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Korea.
  • Kim SJ; Won-Sang Lee Institute for Hearing Loss, Seoul, Korea.
  • Kim B; Department of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Korea.
  • Kim HY; Won-Sang Lee Institute for Hearing Loss, Seoul, Korea.
  • Choi JY; Department of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Korea.
  • Gee HY; Won-Sang Lee Institute for Hearing Loss, Seoul, Korea.
  • Jung J; Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, Korea.
J Korean Med Sci ; 38(48): e355, 2023 Dec 11.
Article en En | MEDLINE | ID: mdl-38084023
BACKGROUND: Mutations in mitochondrial DNA (mtDNA) are associated with several genetic disorders, including sensorineural hearing loss. However, the prevalence of mtDNA mutations in a large cohort of Korean patients with hearing loss has not yet been investigated. Thus, this study aimed to investigate the frequency of mtDNA mutations in a cohort of with pre- or post-lingual hearing loss of varying severity. METHODS: A total of 711 Korean families involving 1,099 individuals were evaluated. Six mitochondrial variants associated with deafness (MTRNR1 m.1555A>G, MTTL1 m.3243A>G, MTCO1 m.7444G>A and m.7445A>G, and MTTS1 m.7471dupC and m.7511T>C) were screened using restriction fragment length polymorphism. The prevalence of the six variants was also analyzed in a large control dataset using whole-genome sequencing data from 4,534 Korean individuals with unknown hearing phenotype. RESULTS: Overall, 12 of the 711 (1.7%) patients with hearing loss had mtDNA variants, with 10 patients from independent families positive for the MTRNR1 m.1555A>G mutation and 2 patients positive for the MTCO1 m.7444G>A mutation. The clinical characteristics of patients with the mtDNA variants were characterized by post-lingual progressive hearing loss due to the m.1555A>G variant (9 of 472; 1.9%). In addition, 18/4,534 (0.4%) of the Korean population have mitochondrial variants associated with hearing loss, predominantly the m.1555A>G variant. CONCLUSION: A significant proportion of Korean patients with hearing loss is affected by the mtDNA variants, with the m.1555A>G variant being the most prevalent. These results clarify the genetic basis of hearing loss in the Korean population and emphasize the need for genetic testing for mtDNA variants.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pérdida Auditiva / Pérdida Auditiva Sensorineural Límite: Humans País/Región como asunto: Asia Idioma: En Revista: J Korean Med Sci Asunto de la revista: MEDICINA Año: 2023 Tipo del documento: Article Pais de publicación: Corea del Sur
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pérdida Auditiva / Pérdida Auditiva Sensorineural Límite: Humans País/Región como asunto: Asia Idioma: En Revista: J Korean Med Sci Asunto de la revista: MEDICINA Año: 2023 Tipo del documento: Article Pais de publicación: Corea del Sur