Evidence map›Paper›PMID 38084023›Full record

ArticleJournal of Korean medical science2023

Prevalence and Clinical Characteristics of Mitochondrial DNA Mutations in Korean Patients With Sensorineural Hearing Loss.

Sun Young Joo, Seung Hyun Jang, Jung Ah Kim, Se Jin Kim, Bonggi Kim, Hye-Youn Kim, Jae Young Choi, Heon Yung Gee, Jinsei Jung

Open access · goldAbstract read
In one paragraph

Article in Journal of Korean medical science, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.2field-weighted citation impact, top 23% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 6 citations in OpenAlex.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors at 1 institution in 1 country.

Sun Young Joo *Department of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Korea.ORCID https://orcid.org/0000-0001-8121-9714
Seung Hyun Jang *Department of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Korea.ORCID https://orcid.org/0009-0002-1147-1476
Jung Ah KimDepartment of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Korea.ORCID https://orcid.org/0000-0002-1264-8328
Se Jin KimDepartment of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Korea.ORCID https://orcid.org/0009-0006-5244-4887
Bonggi KimDepartment of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, Korea.ORCID https://orcid.org/0009-0005-9708-2659
Hye-Youn KimDepartment of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Korea.ORCID https://orcid.org/0000-0003-2090-6427
Jae Young ChoiWon-Sang Lee Institute for Hearing Loss, Seoul, Korea.ORCID https://orcid.org/0000-0001-9493-3458
Heon Yung GeeDepartment of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Korea.ORCID https://orcid.org/0000-0002-8741-6177
Jinsei JungWon-Sang Lee Institute for Hearing Loss, Seoul, Korea.ORCID https://orcid.org/0000-0003-1906-6969
Yonsei University · KR

Funding

National Research Foundation of Korea 2020R1A2C3005787National Research Foundation of Korea NRF-2021R1A2C2003549Yonsei University College of Medicine 6-2021-0002Yonsei University College of Medicine 6-2021-0003
6 · The paper itself

Abstract

backgroundMutations 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.

methodsA total of 711 Korean families involving 1,099 individuals were evaluated. Six mitochondrial variants associated with deafness (

resultsOverall, 12 of the 711 (1.7%) patients with hearing loss had mtDNA variants, with 10 patients from independent families positive for the

conclusionA 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.

Indexed as

Hearing LossHearing Loss, SensorineuralDNA, MitochondrialHumansMutationPrevalenceRepublic of KoreaDNA, MitochondrialMitochondrial DNARestriction Fragment Length PolymorphismSensorineural Hearing Loss

Identifiers

PMID38084023
PMCPMC10713439
OpenAlexW4388237255

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.