Clinical and genetic characteristics of young-onset diabetes with concurrent mitochondrial m.3243A>G and CEL gene mutations: A case report

doi:10.4239/wjd.v16.i12.113238

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World Journal of Diabetes

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Case Report

World J Diabetes. Dec 15, 2025; 16(12): 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, Zheng-Liang Wei, Wuriliga Gong, Ling Qin, Shuang Liu, Yuan-Hui Jin, He-Yuan Wang

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).

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: 117 Days and 0.7 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 ketoacidosis, severe weight loss, retinopathy, and hearing loss. Whole-exome sequencing identified both mutations, each linked to distinct diabetes subtypes. The study proposes a "two-hit" mechanism in which the mitochondrial mutation compromises β-cell function, whereas the CEL mutation exacerbates insulin deficiency. These findings highlight the importance of genetic testing in diagnosing rare forms of diabetes and tailoring treatment.