Aierken Taxitiemuer, Ylilihamujiang Yimamu, Patamu Mohemaiti and Rebiya Nuli
Objective: To study the characteristics of changes in serum metabolites in two Uyghur families with probable maturity-onset diabetes of young (MODY). Method: We gathered two probable MODY families composed of four generations of Uyghurs from Kashgar region, Xinjiang Uyghur Autonomous Region, China. A total of 52 family members were gathered. Their general information, measured blood glucose levels, blood lipid levels, and blood pressure were analyzed. Using 1H Nuclear Magnetic Resonance (1H NMR) spectroscopy, serum metabolites were measured for each study participants. After having conducted data pretreatment on the spectrogram, orthogonal partial least squares discriminant analysis (OPLS-DA) was used to interpret data. We divided subjects into two groups according to blood glucose (norrmal and high), blood pressure, body mass index (BMI) levels, and compared the metabolites. We determined differences of metabolism components between each group's serum using pearson correlation coefficients with significant difference detection and two-dimensional spectrum technology. Results: ?Isoleucine and tyrosine levels were decreased significantly (p<0.05) and ?-glucose, ?-glucose levels were increased obviously(p<0.05), when high blood glucose group compared with normal blood glucose group ?Citrate, phaseomannite, 1-methyl histidine and tyrosine levels were all decreased significantly(p<0.05), When comparing serum metabolites between hypertension group and norrmal blood pressure group in probable MODY family members ?No significant metabonomic changes were observed when comparing norrmal BMI group and high BMI group. Conclusion: The metabolites in the serum of Uyghur probable MODY family members were very different in different groups. Isoleucine, citrate, inositol, 1-methylhistidine and tyrosine are the differential metabolites, these metabolites can be considered as candidate biomarkers for predicting probable MODY. Differences of the metabolits in serum of probable MODY families suggested that the TCA cycle metabolic disorder and the obstruction of fat metabolism in the patients of the probable MODY families.