Balkan Journal of Medical Genetics

THE MITOCHONDRIAL tRNAGly T10003C MUTATION MAY NOT BE ASSOCIATED WITH DIABETES MELLITUS
Yuan Q, Zhao ZG, Yuan HJ
*Corresponding Author: Dr. Qian Yuan, Department of Endocrinology and Metabolism, People’s Hospital of Zhengzhou University, Weiwu Road 7, Zhengzhou, Henan Province, People’s Republic of China. Tel/Fax: +86-0371-6558-0014. E-mail: yuanqian001@126.com
page: 53

MATERIALS AND METHODS

different reports regarding the T10003C mutation, we performed a systematic review for this mutation using the Google scholar, PubMed Central and Human MITOMAP database. The literature search was carried out using these combined keywords: “mitochondrial T10003C mutation” or “mitochondrial T10003C variant.” We excluded studies if the crucial data were not reported in original paper. Evolutionary Conservation Analysis. To understand the potential pathogenic role of the T10003C mutation, we analyzed the CI of this mutation. Briefly, 10 vertebrate mttRNAGly gene sequences were selected for this analysis. The conservation index (CI) was then calculated by comparing the human nucleotide variants with nine other vertebrates [10]. We regarded the CI as the percentage of species from the list of 10 different primates that have the wild-type at the corresponding position. The CI >75.0% was proposed to have a functional potential. Haplogroup Analysis. We used the Phylotree (www. phylotree.org) to determine the haplogroup status of the T10003C mutation [11]. Prediction of the Secondary Structure of tRNAGly With and Without the T10003C Mutation. We used the RNA Fold Webserver program (http://rna.tbi.univie.ac.at/ cgi-bin/RNAfold.cgi) to predict the secondary structures of the wild-type version of mt-tRNAGly and the mutant carrying the T10003C mutation [12]. Mutational Analysis of the T10003C Mutation. Five hundred unrelated DM patients including 250 male and 250 females were recruited from the Department of Endocrinology and Metabolism, People’s Hospital of Zhengzhou University, Zhengzhou, Zhengzhou, Henan Province, People’s Republic of China. The age ranged from 50 to 80 years with the median at 61. In addition, 300 healthy, age- and gender-matched controls, obtained from the same area were also enrolled in this study. This study was approved by the Ethics Committee of the People’s Hospital of Zhengzhou University. The clinical diagnosis of DM was according to the American Diabetes Association criteria: the level of fasting plasma glucose of ≥7.0 mmol/dL, or the level of the oral glucose tolerance ≥1.11 mmol/dL, or Hb A1c concentration ≥6.5% [13]. Determination of the T10003C mutation was performed by polymerase chain reaction (PCR) amplification and sequencing analysis of the targeted region spanning the mt-tRNAGly gene. The following primers were used: forward 5’-TCT CCA TCT ATT GAT GAG GGT CT-3’; reverse 5’-AAT TAG GCT GTG GGT GGT TG- 3’; after PCR amplification, the fragment was purified and subsequently analyzed by direct sequencing in an ABI PRISM® 3700 automatic DNA sequencer using the BigDye Terminator Cycle sequencing reaction kit (Applied Biosystems Inc., Foster City, CA, USA). The data was then compared with the reversed consensus Cambridge sequence (GenBank Accession No. NC_12920) [14]. Statistical Analyses. We used the Statistical Package for the Social Sciences (SPSS), version 17.0 software to analyze the statistical significance (SPSS Inc., Chicago, IL, USA). Fisher’s exact test was performed to evaluate the differences in categorical variables, and a value of p <0.05 was regarded as statistically significant.

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