Major depressive disorder is associated with mitochondrial ND6 T14502C mutation in two Han Chinese families

Table 1 Summary of clinical molecular data for two probands carrying the ND6 T14502C mutation

Subject	Gender	Age of test (years)	Age of onset (years)	First episode	History of suicide attempts	Psychotic symptoms	HDRS	Level of depression	MtDNA haplogroup
NB053-II-2	F	43	43	Yes	No	Yes	26	Severe	M10
2NB038-II-3	M	53	52	Yes	No	No	23	Moderate	H2

F: Female; M: Male; HDRS: Hamilton depression rating scale; MtDNA: Mitochondrial DNA.

Table 2 Mitochondrial DNA mutations in two Chinese pedigrees with major depressive disorder

Gene	Position	Replacement	Conservation1 (H/B/M/X)	CRS2	NB053	2NB038	Previously reported3
D-loop	73	A to G		A	G	G	Yes
	195	T to C		T		C	Yes
	263	A to G		A	G	G	Yes
	309	C to CCT		C	CCT		Yes
	310	T to C		T	C	TC	Yes
	408	T to A		T	A		Yes
	459	C to T		C	T		Yes
	489	T to C		T	C		Yes
	561	A to C		A	C		Yes
	567	A to ACCCC		A	ACCCC		Yes
	16176	C to T		C		T	Yes
	16223	C to T		C	T	T	Yes
	16232	C to T		C		T	Yes
	16311	T to C		T	C		Yes
	16355	C to T		C		T	Yes
	16362	T to C		T		C	Yes
	16519	T to C		T	C	C	Yes
12S rRNA	750	A to G	A/A/A/-	A	G	G	Yes
	813	A to G	A/A/C/T	A		G	Yes
	884	T to C	T/C/T/C	T	C		Yes
	1438	A to G	A/A/A/G	A	G	G	Yes
16S rRNA	1673	T to C	T/T/T/T	T	C		Yes
	2706	A to G	A/G/A/A	A	G	G	Yes
	3106	CN to C	C/-/T/-	CN	C	C	Yes
	3167	T to TC	T/T/C/C	T	TC		Yes
	3173	G to A	G/A/A/A	G	A		Yes
ND1	4140	C to T		C	T		Yes
ND2	4569	GA to G (Glu34 Lys)	E/E/E/E	GA	G		No
	4573	TA to T (Met35 Lys)	M/M/F/I	TA	T		Yes
	4769	A to G		A	G	G	Yes
	5505	A to G (Ile346Val)	I/L/-/-	A	G		Yes
CO1	5824	G to A		G		A	Yes
	6674	T to C		T		C	Yes
	7028	C to T		C	T	T	Yes
CO2	7975	A to G		A		G	Yes
tRNALys	8296	A to G	A/A/A/A	A		G	Yes
ATP6	8618	T to C (Ile31Thr)	I/F/F/I	T		C	Yes
	8701	A to G (Thr59Ala)	T/S/L/Q	A	G		Yes
	8793	T to C		T	C		Yes
	8860	A to G (Thr112Ala)	T/A/A/T	A	G	G	Yes
	8928	T to C		T		C	Yes
	9027	C to T		C	T		Yes
	9180	A to G		A		G	Yes
CO3	9540	T to C		T	C		Yes
ND3	10289	A to G		A		G	Yes
	10398	A to G (Thr114Ala)	T/T/T/A	A	G		Yes
	10400	C to T		C	T		Yes
ND4	10873	T to C		T	C		Yes
	10908	T to C (Phe50Ser)	F/L/K/H	T		C	Yes
	11581	C to A		C		A	Yes
	11719	G to A		G	A	A	Yes
ND5	12549	C to T		C	T		Yes
	12705	C to T		C	T	T	Yes
	13152	A to G		A	G		Yes
	13422	A to G		A	G		Yes
ND6	14220	A to G		A		G	Yes
	14311	T to C		T		C	Yes
	14431	T to C		T		C	Yes
	14502	T to C (Ile58Val)	I/I/I/I	T	C	C	Yes
CYTB	14766	C to T (Thr7Ile)	T/S/T/S	C	T	T	Yes
	14783	T to C		T	C		Yes
	15040	C to T		C	T		Yes
	15043	G to A		G	A		Yes
	15071	T to C (Tyr109His)	Y/F/F/Y	T	C		Yes
	15301	G to A		G	A		Yes
	15326	A to G (Thr194Ala)	T/M/I/I	A	G	G	Yes
	15514	T to C		T		C	Yes
	15617	G to A (Val291Ile)	V/V/V/V	G	A		Yes
tRNAThr	15900	T to C	T/C/T/T	T		C	Yes

¹Conservation of amino acids for polypeptides or nucleotides for RNAs in human, bovine, mouse, and xenopus laevis.

²Cambridge reference sequence.

³See online mitochondrial genome databases http://www.mitomap.org and http://www.genpat.uu.se/mtDB/.

H: Human; B: Bovine; M: Mouse; X: Xenopus laevis; CRS: Cambridge reference sequence.