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Genomic profiling of Mitochondrial DNA reveals novel complex gene mutations in familial type 2 diabetes mellitus individuals from Mizo ethnic population, Northeast India
Mitochondrion ( IF 4.4 ) Pub Date : 2020-03-01 , DOI: 10.1016/j.mito.2019.12.001
Freda Lalrohlui 1 , John Zohmingthanga 2 , Vanlal Hruaii 3 , Nachimuthu Senthil Kumar 1
Affiliation  

The variants reported for mitochondrial DNA (mtDNA) and type 2 diabetes (T2D) may not be accountable for the disease in certain other populations and the risk depends upon numerous factors which may include genetics, environment as well as ethnicity. This leads to a challenge in identifying, exploring and comparing the variants between diabetic cases and healthy controls in a remote unexplored tribal population. To study the possible contribution of mtDNA variants, we sequenced the entire mitochondrial genomes and the frequencies of mtSNPs, their association with familial T2D and the potential impact of non-synonymous substitutions on protein functions were determined. The mtSNP 8584 G>A (ATP6: A20T) was detected in 14.28% of the diabetic patients and none in the control groups. The mitochondrial ND3 variant 10398A>G was found to be significantly associated with the risk of T2D (OR=9.489, 95% CI=1.161-77.54, P value=0.036). A novel Frame-shift substitution ND5: 81_81ins A at position 12417 was observed in 53.57% of diabetic individuals. Majority of the variants lie in tRNA-Phe in the non-protein coding region of mtDNA for both diabetic cases and common cases. We concluded that mutations in the coding (synonymous or non-synonymous) and noncoding regions of the mitochondria might have contribution towards the development of T2D. Our study is the first to report the distinct mitochondrial variants which may be attributed to the susceptibility as well as development of type 2 diabetes in an ethnic tribe from northeast India.

中文翻译:

线粒体 DNA 的基因组分析揭示了来自印度东北部 Mizo 族群的家族性 2 型糖尿病个体的新型复杂基因突变

报告的线粒体 DNA (mtDNA) 和 2 型糖尿病 (T2D) 变异可能与某些其他人群的疾病无关,风险取决于多种因素,可能包括遗传、环境和种族。这导致在偏远的未探索部落人口中识别、探索和比较糖尿病病例和健康对照之间的变异是一项挑战。为了研究 mtDNA 变异的可能贡献,我们对整个线粒体基因组进行了测序,并确定了 mtSNP 的频率、它们与家族性 T2D 的关联以及非同义替换对蛋白质功能的潜在影响。mtSNP 8584 G>A (ATP6: A20T) 在 14.28% 的糖尿病患者中被检测到,而在对照组中则没有。线粒体ND3变体10398A> 发现 G 与 T2D 风险显着相关(OR=9.489,95% CI=1.161-77.54,P 值=0.036)。在 53.57% 的糖尿病个体中观察到了一种新的移码替换 ND5:12417 位的 81_81ins A。对于糖尿病病例和普通病例,大多数变体位于 mtDNA 非蛋白质编码区的 tRNA-Phe 中。我们得出结论,线粒体编码(同义或非同义)和非编码区的突变可能对 T2D 的发展有贡献。我们的研究首次报告了不同的线粒体变异,这可能归因于印度东北部一个民族部落的 2 型糖尿病的易感性和发展。在 53.57% 的糖尿病个体中观察到位置 12417 处的 81_81ins A。对于糖尿病病例和普通病例,大多数变体位于 mtDNA 非蛋白质编码区的 tRNA-Phe 中。我们得出结论,线粒体编码(同义或非同义)和非编码区的突变可能对 T2D 的发展有贡献。我们的研究首次报告了不同的线粒体变异,这些变异可能归因于印度东北部一个民族部落中 2 型糖尿病的易感性和发展。在 53.57% 的糖尿病个体中观察到位置 12417 处的 81_81ins A。对于糖尿病病例和普通病例,大多数变体位于 mtDNA 非蛋白质编码区的 tRNA-Phe 中。我们得出结论,线粒体编码(同义或非同义)和非编码区的突变可能对 T2D 的发展有贡献。我们的研究首次报告了不同的线粒体变异,这些变异可能归因于印度东北部一个民族部落中 2 型糖尿病的易感性和发展。我们得出结论,线粒体编码(同义或非同义)和非编码区的突变可能对 T2D 的发展有贡献。我们的研究首次报告了不同的线粒体变异,这可能归因于印度东北部一个民族部落的 2 型糖尿病的易感性和发展。我们得出结论,线粒体编码(同义或非同义)和非编码区的突变可能对 T2D 的发展有贡献。我们的研究首次报告了不同的线粒体变异,这可能归因于印度东北部一个民族部落的 2 型糖尿病的易感性和发展。
更新日期:2020-03-01
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