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©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jan 7, 2022; 10(1): 205-216
Published online Jan 7, 2022. doi: 10.12998/wjcc.v10.i1.205
Published online Jan 7, 2022. doi: 10.12998/wjcc.v10.i1.205
Novel m.4268T>C mutation in the mitochondrial tRNAIle gene is associated with hearing loss in two Chinese families
Li-Jing Zhao, Department of Otorhinolaryngology Head and Neck Surgery, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China
Zhi-Li Zhang, Department of Otorhinolaryngology Head and Neck Surgery, The First Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310003, Zhejiang Province, China
Yong Fu, Department of Otorhinolaryngology Head and Neck Surgery, The Children’s Hospital, Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China
Author contributions: Fu Y designed the study; Zhao LJ and Zhang ZL acquired and analyzed the data; Fu Y wrote the article; all authors reviewed and approved the final version to be published.
Institutional review board statement: Informed consent, blood samples, and clinical evaluations were obtained from all participants and family members according to protocols approved by the Ethics Committee of Zhejiang University School of Medicine.
Informed consent statement: All study participants or their legal guardian provided informed written consent regarding personal and medical data collection prior to study enrolment.
Conflict-of-interest statement: The authors have no conflict of interest related to the manuscript.
Data sharing statement: The original anonymous dataset is available on request from the corresponding author at 1307022@zju.edu.cn .
STROBE statement: The guidelines of the STROBE Statement have been adopted.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Yong Fu, MD, Doctor, Department of Otorhinolaryngology Head and Neck Surgery, The Children’s Hospital, Zhejiang University School of Medicine, No. 57 Zhugan Lane, Xiacheng District, Hangzhou 310009, Zhejiang Province, China. 1307022@zju.edu.cn
Received: June 17, 2021
Peer-review started: June 17, 2021
First decision: July 16, 2021
Revised: July 23, 2021
Accepted: November 29, 2021
Article in press: November 29, 2021
Published online: January 7, 2022
Peer-review started: June 17, 2021
First decision: July 16, 2021
Revised: July 23, 2021
Accepted: November 29, 2021
Article in press: November 29, 2021
Published online: January 7, 2022
Core Tip
Core Tip: The 4268T>C mutation is located in a relatively highly conserved base-pairing (6U–67A) of tRNAIle. The elimination of 6U–67A base-pairing may change tRNAIle metabolism. Moreover, the reduced tRNA level is inferior to the proposed threshold to maintain normal respiration in lymphoblastoid cells.