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World J Diabetes. Apr 15, 2026; 17(4): 115842
Published online Apr 15, 2026. doi: 10.4239/wjd.v17.i4.115842
Published online Apr 15, 2026. doi: 10.4239/wjd.v17.i4.115842
Type 2 diabetes mellitus may be associated with a novel mitochondrial tRNAThr/tRNAPro mutation
Liang Xu, Meng-Ting Liu, The Fourth School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou 310006, Zhejiang Province, China
Xiu-Mei He, Department of Clinical Laboratory, Jiande First People’s Hospital, Hangzhou 311600, Zhejiang Province, China
Shun-Rong Zhang, Department of Geriatrics, Hangzhou First People’s Hospital, Hangzhou 310006, Zhejiang Province, China
Dao-Jun Yu, Yu Ding, Department of Clinical Laboratory, Hangzhou First People’s Hospital, Hangzhou 310006, Zhejiang Province, China
Co-first authors: Liang Xu and Meng-Ting Liu.
Co-corresponding authors: Dao-Jun Yu and Yu Ding.
Author contributions: Xu L and Liu MT performed the genetic and cellular experiments and are co-first authors of this manuscript; He XM performed molecular and statistical analyses; Zhang SR collected samples and controls; Yu DJ and Ding Y designed the study and drafted the manuscript and are co-corresponding authors of this manuscript; all authors read the manuscript.
Supported by the Key Project of Natural Science Foundation of Zhejiang Province, No. LZ22H190002; Hangzhou Joint Fund of the Zhejiang Provincial Natural Science Foundation of China, No. LHZY24H020002; Key Project of Hangzhou Bureau of Science and Technology, No. 202204A01; Zhejiang Provincial Medicine and Health Science Foundation, No. WKJ-ZJ-2514; and the Construction Fund of Key Medical Disciplines of Hangzhou, Laboratory Diagnostics, No. 2025HZZD01.
Institutional review board statement: The study was reviewed and approved by the Ethics Committee of Hangzhou First People’s Hospital (approval No. KY-20240327-0100-01).
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
Data sharing statement: The datasets for this study will be available from the corresponding authors upon reasonable request.
Corresponding author: Yu Ding, MD, Associate Professor, Department of Clinical Laboratory, Hangzhou First People’s Hospital, No. 261 Huansha Road, Hangzhou 310006, Zhejiang Province, China. dingyu_zj@126.com
Received: October 28, 2025
Revised: December 17, 2025
Accepted: March 5, 2026
Published online: April 15, 2026
Processing time: 169 Days and 6.7 Hours
Revised: December 17, 2025
Accepted: March 5, 2026
Published online: April 15, 2026
Processing time: 169 Days and 6.7 Hours
Core Tip
Core Tip: This study reports a Han Chinese pedigree with maternally inherited type 2 diabetes mellitus. We identified a novel mitochondrial (mt) C15954T mutation located in the intergenic spacer between the mt-tRNAThr and mt-tRNAPro genes. Phylogenetic analysis revealed that the nucleotide at position 15954 is highly conserved across species, suggesting a potential role in the 3’ end processing of both tRNAThr and tRNAPro. Using trans-mitochondrial cybrid models, we demon