Maternally inherited type 2 diabetes mellitus may be associated with mitochondrial tRNAThr mutations

doi:10.4239/wjd.121165

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World Journal of Diabetes

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1948-9358

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Copyright: ©Author(s) 2026. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial (CC BY-NC 4.0) license. No commercial re-use. See permissions. Published by Baishideng Publishing Group Inc.

World J Diabetes. Aug 15, 2026; 17(8): 121165
Published online Aug 15, 2026. doi: 10.4239/wjd.121165

Table 3 Mitochondrial DNA variants in two Han Chinese pedigrees with type 2 diabetes mellitus

Genes	Position	Replacement	Conservation (H/B/M/X)¹	rCRS	DM-005	DM-010	Previously reported²
D-loop	73	A to G		A	G	G	Yes
	153	A to G		A	G		Yes
	199	A to G		A		G	Yes
	249	Del A		A		Del A	Yes
	263	A to G		A	G		Yes
	310	T to CTC/TC		T	CTC	TC	Yes
	524	Del C		C		Del C	Yes
	16183	T to C		T	C		Yes
	16189	T to C		T		C	Yes
	16311	T to C		T	C		Yes
12S rRNA	709	G to A	G/G/A/-	G		A	Yes
	750	A to G	A/A/A/-	A	G	G	Yes
	1438	A to G	A/A/A/G	A	G	G	Yes
16S rRNA	2706	A to G	A/G/A/A	A	G	G	Yes
	3010	G to A	G/G/A/A	G	A		Yes
	3107	Del N		N	Del N	Del N	Yes
ND1	3552	T to A		T		A	Yes
	3970	C to T		C	T	T	Yes
	4048	G to A (Asp to Asn)		G		A	Yes
	4071	C to T		C	T		Yes
ND2	4715	A to G		A	G		Yes
	4769	A to G		A	G	G	Yes
	4883	C to T		C	T	T	Yes
	5178	C to A (Leu to Met)	L/T/T/T	C	A		Yes
	5460	G to A (Ala to Thr)	A/V/I/I	G	A		Yes
CO1	6053	C to T		C	T		Yes
	6392	T to C		T		C	Yes
	7028	C to T		C	T	T	Yes
	7196	C to A		C		A	Yes
CO2	8020	G to A		G	A		Yes
NC7	8271-8279	9-bp Del			9-bp Del		Yes
A6	8701	A to G (Thr to Ala)	T/S/L/Q	A	G	G	Yes
	8860	A to G (Thr to Ala)	T/A/A/T	A	G	G	Yes
	9053	G to A (Ser to Asp)	S/G/G/T	G	A		Yes
CO3	9540	T to C		T	C	C	Yes
ND3	10310	G to A		G	A		Yes
	10398	A to G (Thr to Ala)	T/T/T/A	A		G	Yes
	10400	C to T		C		T	Yes
ND4	10873	T to C		T		C	Yes
ND4	11719	G to A		G	A	A	Yes
ND5	12705	C to T		C	T	T	Yes
ND5	13928	G to C (Ser to Thr)		G	C		Yes
ND6	14668	C to T		C	T	T	Yes
CytB	14783	T to C		T	C		Yes
	15043	G to A		G	A	A	Yes
	15301	G to A		G	A	A	Yes
	15326	A to G (Thr to Ala)	T/M/I/I	A	G	G	Yes
tRNA^Thr	15927	G to A	G/G/G/G	G	A		Yes
	15930	G to A	G/G/A/A	G		A	Yes
	15951	A to G	A/A/A/A	A		G	Yes

¹Conservation assessment of mutations in tRNA, rRNA and OXPHOS-encoding genes among human (H), bovine (B), mouse (M), and Xenopus laevis (X).

²Please see the Mitomap (HYPERLINK) and mtDB (HYPERLINK) databases.

DM: Diabetes mellitus; OXPHOS: Oxidative phosphorylation; rCRS: Revised Cambridge Reference Sequence.

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Citation: Yu XJ, Ding Y. Maternally inherited type 2 diabetes mellitus may be associated with mitochondrial tRNA^Thr mutations. World J Diabetes 2026; 17(8): 121165
URL: https://www.wjgnet.com/1948-9358/full/v17/i8/121165.htm
DOI: https://dx.doi.org/10.4239/wjd.121165

Yu XJ, Ding Y. Maternally inherited type 2 diabetes mellitus may be associated with mitochondrial tRNA^Thr mutations. World J Diabetes 2026; 17(8): 121165 [DOI: 10.4239/wjd.121165]

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