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

RESULTS

Relationship Between the T10003C Mutation and Diabetes Mellitus. As a result, two potential articles concerning the association between the T10003C mutation and DM have been identified. After carefully reading the complete manuscripts, we found that one of them described a Chinese family with T2DM [15], while another paper, which met our inclusion criteria, reported a Chinese family with T2DM and deafness [16]. However, after carefully checking these reported families, it looked as if they were from the same family. Evolutionary Conservation Analysis of the T10003C Mutation. With the purpose of understanding the molecular basis of the T10003C mutation, we performed the evolutionary conservation analysis for this mutation between different species. As shown in Figure 1, the T10003C mutation occurred in the D-stem of tRNAGly (position 13). Nucleotide at that position was not very conserved (CI = 50.0%), suggesting that the T to C transition at 10003 position may not be involved in the pathogenesis of DM. Phylogenetic Analysis of the T10003C Mutation. We further performed a haplogroup analysis for the T10003C mutation, based on the Phylotree. We noticed that the T10003C mutation belonged to the East Asian mitochondrial haplogroup M11b [11]. The T10003C Mutation did not Alter the Structure of tRNAGly. To test whether T10003C mutation caused the tRNAGly structure alteration, the sequence of the wildtype and the mutant carrying the T10003C mutation were predicted using RNA Fold software. As shown in Figure 2, the T10003C mutation did not change the secondary structure of tRNAGly, indicating that this mutation had little effect on tRNAGly folding, reinforcing the idea that this mutation was not pathogenic. Screening of the T10003C Mutation in 500 Unrelated DM Patients. To investigate the allelic frequency of the T10003C mutation in the general population, we used a PCR-Sanger sequence to detect this mutation in 500 unrelated DM patients and 300 healthy controls. However, we failed to identify any mutations in the tRNAGly gene, suggesting that this mutation may be a rare event in the human population.

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