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©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Diabetes. Dec 15, 2025; 16(12): 113238
Published online Dec 15, 2025. doi: 10.4239/wjd.v16.i12.113238
Published online Dec 15, 2025. doi: 10.4239/wjd.v16.i12.113238
Clinical and genetic characteristics of young-onset diabetes with concurrent mitochondrial m.3243A>G and CEL gene mutations: A case report
Xiao-Dan Che, Ling Qin, Shuang Liu, Yuan-Hui Jin, Department of Endocrinology, Meihekou Central Hospital, Meihekou 135000, Jilin Province, China
Zheng-Liang Wei, Wuriliga Gong, He-Yuan Wang, Department of Endocrinology and Metabolism, The First Hospital of Jilin University, Changchun 130000, Jilin Province, China
Co-first authors: Xiao-Dan Che and Zheng-Liang Wei.
Co-corresponding authors: Yuan-Hui Jin and He-Yuan Wang.
Author contributions: Che XD and Wei ZL contribute equally to this study as co-first authors; Jin YH and Wang HY contribute equally to this study as co-corresponding authors; Che XD was responsible for investigation, writing-original draft; Wei ZL was responsible for visualization, writing original draft, conceptualization, investigation, supervision, writing-review & editing; Gong W was responsible for supervision, writing–review & editing; Qin L was responsible for investigation, writing-original draft; Liu S was responsible for supervision, writing-review & editing; Wang HY was responsible for writing-review & editing, supervision; Jin YH was responsible for writing–review & editing.
Supported by Jilin Province Science and Technology Development Project, No. 20220203018SF.
Informed consent statement: Written informed consent was obtained from the patient for publication of this report.
Conflict-of-interest statement: The authors declare no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: He-Yuan Wang, MD, Department of Endocrinology and Metabolism, The First Hospital of Jilin University, No. 1 Xinmin Street, Changchun 130000, Jilin Province, China. wangheyuan@jlu.edu.cn
Received: August 21, 2025
Revised: October 10, 2025
Accepted: November 18, 2025
Published online: December 15, 2025
Processing time: 116 Days and 17.3 Hours
Revised: October 10, 2025
Accepted: November 18, 2025
Published online: December 15, 2025
Processing time: 116 Days and 17.3 Hours
Core Tip
Core Tip: This case report describes a young man with diabetes mellitus attributable to concurrent mutations in the mitochondrial MT-TL1 gene (m.3243A>G) and the CEL gene (c.1336G>A). The patient exhibited atypical features, including diabetic keto