Publication Name	World Journal of Diabetes
Manuscript ID	113238
Country	China

Category	Endocrinology & Metabolism
Manuscript Type	Case Report
Article Title	Clinical and genetic characteristics of young-onset diabetes with concurrent mitochondrial m.3243A>G and CEL gene mutations: A case report
Manuscript Source	Unsolicited Manuscript
All Author List	Xiao-Dan Che, Zheng-Liang Wei, Wuriliga Gong, Ling Qin, Shuang Liu, Yuan-Hui Jin and He-Yuan Wang
Funding Agency and Grant Number	Funding Agency Grant Number Jilin Province Science and Technology Development Project 20220203018SF
Corresponding Author	He-Yuan Wang, MD, Department of Endocrinology and Metabolism, The First Hospital of Jilin University, No. 1, Xinmin Street, Changchun City, Changchun 130000, Jilin Province, China. wangheyuan@jlu.edu.cn
Key Words	Monogenic diabetes; Genetic heterogeneity; Dual mutations; Precise diagnosis; Mutational spectrum; Case report
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.
Citation	Che XD, Wei ZL, Gong W, Qin L, Liu S, Jin YH, Wang HY. Clinical and genetic characteristics of young-onset diabetes with concurrent mitochondrial m.3243A>G and CEL gene mutations: A case report. World J Diabetes 2025; In press

Received	2025-08-21 05:33
Peer-Review Started	2025-08-21 08:15
To Make the First Decision
Return for Revision	2025-09-16 09:46
Revised	2025-10-10 12:44
Second Decision	2025-11-11 02:47
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief	2025-11-18 09:03
Articles in Press	2025-11-18 09:03
Publication Fee Transferred	2025-10-17 14:52
Edit the Manuscript by Language Editor
Typeset the Manuscript

ISSN	1948-9358 (online)
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