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

INTRODUCTION

Type 2 diabetes mellitus (T2DM) is a highly prevalent disease worldwide. The T2DM is featured with relative higher level of blood glucose than normal subjects, moreover it manifested insulin resistance in several conditions [1]. The etiology of T2DM is not well understood, but it is now generally believed that this disease may be related to the genetic, personal and environmental factors. Among these, genetic polymorphisms in nuclear genes have been reported to be associated with T2DM [2]. However, the maternally inherited pattern of T2DM may also be frequent [3], highlighting the importance of mitochondrial disfunction in T2DM. In fact, approximately 85.0% of mitochondrial diabetes cases are associated with the A3243G mutation in the tRNALeu(UUR) gene [4], moreover, some other point mutations, such as T3264C and T3271C in the tRNALeu(UUR) gene, are reported in patients with DM [5,6]. These mutations impaired the mitochondrial protein synthesis, subsequently affecting the oxidative phosphorylation (OXPHOS) complexes, thus causing the mitochondrial dysfunction responsible for DM [7]. As a result, the mt-tRNA genes have become novel targets for investigation the relationship between mitochondrial dysfunction and T2DM. However, it come to our attention that the genotypephenotype relationship between DM and mt-tRNA gene mutations was still controversial. At the same time, many T2DM associated mt-tRNA variants have been reported on PubMed. We have noticed that most of them were common genetic variations becosause they did not meet the pathogenicity scoring system proposed by Yarham et al. [8], such as the association between tRNAPhe C628T mutation and hearing loss [9]. Distinguishing the polymorphisms and disease associated mtDNA mutations is important, both for clinical physician and genetic scientists. In the current investigation, we evaluated the association between a recent reported mt-tRNAGly T10003C mutation and DM. First of all, we performed a systematic database search for the frequency of this mutation; second, we also reassessed the conservation index (CI) of the T10003C mutation, and finally, we performed a case-control study to screen this mutation in 500 unrelated DM patients and 300 healthy individuals.

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