Abstract

Objective To study the characteristics of serum metabolites in two Uyghur families with maturityonset diabetes of the young(MODY).Methods Two MODY families were composed of four generations of Uyghur with 52 members collected from Kashgar region,Xinjiang Uyghur Autonomous Region.The general information,blood glucose and lipid levels,and blood pressure were analyzed.Using 1H nuclear magnetic resonance (1H NMR )spectroscopy,serum metabolites were measured for each subject.After having conducted data pretreatment on the spectrogram,orthogonal partial least squares discriminant analysis ( OPLS-DA ) was used to interpret data.The subjects were divided into two groups according to blood glucose ( diabetes and non-diabetes ),blood pressure,body mass index ( BMI ) for comparing differences in the metabolites.The differences of serum metabolic components between two groups were determined using pearson correlation coefficients with significant difference detection and two-dimensional spectrum technology.Results lsoleucine and tyrosine levels in diabetes group were decreased significantly,while α-glucose and β-glucose levels were increased significantly compared with non-diabetes group( all P<0.05 ).Citrate,phaseomannite,1 -methyl histidine,and tyrosine levels in hypertension group were all decreased significantly compared with normal blood pressure group( all P<0.05 ).No significant metabonomic differences were observed between normal BMI group and high BMI group.Conclusions Metabonomic changes in diabetic patients from MODY families indicate that diabetic patients suffer from disordered tricarboxylic acid cycle ( TCA cycle )metabolism,with reduced glycolysis of glycogen in liver and muscle.There exist the metabolic disorder in TCA cycle and obstruction of fat metabolism in patients with hypertension from the MODY families. Key words: Maturity-onset diabetes of the young; Pedigree; Metabonomics; 1H nuclear magnetic resonance

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