Objective:To explore the effects of mitochondrial gene mutation of 16189 on family type 2 diabetes mellitus(T2DM).Methods:Totally 570 subjects were enrolled in this study

including 203 with family T2DM(99 males

104 females)

192 without family T2DM(104 males

88 females) and 175 with normal glucose tolerance control(NGT group)(67 males

108 females). The mutation of nt16189 T →C in all groups was detected by PCR and DNA sequencing. Again

family T2 DM was subdivided into two groups:maternally inherited T2 DM and maternally non-inherited T2 DM and mutation rate of nt16189 T →C between the two groups was compared. According to nt16189 T →C mutation

in the maternally inherited T2 DM was subdivided into nt16189 T →C mutation group and non-mutation group

then clinical indicators between the two groups were compared. Statistical analysis was made. Results:nt16189T→C mutation rate of T2DM(both family T2 DM and without family T2DM)was higher than that of NGT group(χ2=26.86

24.04

P=0.00

0.00

respectively)

with no difference between family T2 DM and without family T2DM(χ2=0.07

P=0.079). nt16189T→C mutation rate of maternally inherited family T2 DM was also higher than that of maternally non-inherited family T2 DM [65.79%(25/38)vs. 17.24%(5/29)

χ2=10.823

P=0.001]. In the maternally inherited family T2 DM

the plasma of proinsulin(PI)

true insnlin(TI)and hemoglobin Alc(Hb A1c)in nt DNA16189T→C mutation was higher than that of without nt16189 T →C mutation(χ2=3.41

3.90

3.14;P=0.001

0.000

0.032

respectively). Conclusion:nt16189T→C mutation is associated with T2 DM. The maternally inherited family T2 DM with nt DNA 16189 T →C mutation has more severe degree of PI

TI and Hb A1 c

and it may increase the incidence of diabetes.