Crispim Daisy, Estivalet Aline A F, Roisenberg Israel, Gross Jorge L, Canani Luis H
Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1228-35. doi: 10.1590/s0004-27302008000800005.
The aim of the present study is to investigate the prevalence of ten described mitochondrial DNA (mtDNA) mutations in patients with type 2 diabetes, and search for new mutations in four mtDNA genes in a subgroup of patients with characteristics of maternally inherited diabetes and deafness (MIDD). These mutations were investigated in 407 type 2 diabetic patients without characteristics of mitochondrial diabetes ('classical' type 2 diabetes group) and in 38 type 2 diabetic patients with characteristics suggestive of MIDD. Through sequencing of four mtDNA genes in MIDD patients, we selected five others potentially pathogenic mutations that were also screened in the remaining patients. Overall, the frequency of the fifteen analyzed mutations was 36.84% in the MIDD group and 2.45% in the 'classical' type 2 diabetes group (p < 0.001). In conclusion, our study reinforces the importance of mtDNA mutations in the pathogenesis of MIDD.
本研究的目的是调查2型糖尿病患者中十种已描述的线粒体DNA（mtDNA）突变的患病率，并在具有母系遗传糖尿病和耳聋（MIDD）特征的患者亚组中寻找四个mtDNA基因中的新突变。在407例无线粒体糖尿病特征的2型糖尿病患者（“经典”2型糖尿病组）和38例具有MIDD特征的2型糖尿病患者中对这些突变进行了研究。通过对MIDD患者的四个mtDNA基因进行测序，我们选择了另外五个潜在致病突变，并在其余患者中进行了筛查。总体而言，在MIDD组中，所分析的十五种突变的频率为36.84%，在“经典”2型糖尿病组中为2.45%（p<0.001）。总之，我们的研究强化了mtDNA突变在MIDD发病机制中的重要性。
