| 马惠敏,邵雪景,温洪华,冯亚敏,祝 群.线粒体tRNALeu(UUR)基因A3243G突变型糖尿病患者的家系分析及随访[J].,2018,(1):65-69 |
| 线粒体tRNALeu(UUR)基因A3243G突变型糖尿病患者的家系分析及随访 |
| The Follow-up Analysis of a Diabetes Mellitus Pedigree with Mitochondrial tRNALeu(UUR) Gene Mutation in A3243G |
| 投稿时间：2017-05-26 修订日期：2017-06-21 |
| DOI：10.13241/j.cnki.pmb.2018.01.014 |
| 中文关键词: 线粒体糖尿病 基因突变 遗传特性 |
| 英文关键词: Mitochondrial diabetes mellitus Gene mutation Genetic characteristics |
| 基金项目:国家自然科学基金项目（81270898） |
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| 中文摘要: |
| 摘要 目的：探讨线粒体糖尿病家系中的基因突变位点及临床转归。方法：收集1例线粒体糖尿病患者家系的临床资料，采用PCR、DNA直接测序法对家系成员进行线粒体基因突变高发区域tRNALeu(UUR) 检测，以了解mtDNA3243位点突变情况，并随访8年进一步了解研究对象的临床转归情况及胰岛功能变化。结果：6例家系成员中有5例携带mtDNA3243A→G位点的突变，其中4例为糖尿病患者且伴发不同程度的双侧听力受损(神经性耳聋)，1例父系患者后代未检测出突变位点。随访过程中，先证者死亡，余3例糖尿病患者除常规治疗外，长期口服辅酶Q10，血糖控制较为稳定、尚未出现严重并发症但双侧听力严重下降，胰岛分泌功能明显下降，1例携带者已出现糖耐量受损。结论：线粒体tRNALeu(UUR)点突变与糖尿病具有显著相关性。 |
| 英文摘要: |
| ABSTRACT Objective: To analyze the gene mutation site and investigate the outcomes of mitochondrial diabetes mellitus. Methods: Clinical data of a family with mitochondrial diabetes mellitus were collected. High incidence of mitochondrial tRNALeu(UUR) gene mutation in the family with mitochondrial diabetes mellitus was detected by PCR and DNA direct sequencing assays. These members were fol- lowed up for eight years to further observe the changes of their clinical conditions and pancreatic β-cell function. Results: In the 6 cases of family members, 5 cases carried mt3243A→G gene mutation, 4 cases were diabetic patients with different degrees of hearing loss (sensorineural deafness), and one father's daughter didn't get the mutation. During follow-up of the family, the proband died. Based on conventional treatment, the other three diabetic patients also received long-term oral coenzyme Q10 combinedly. Their blood glucose were controlled stably, and there were no serious complications. However, the bilateral hearing loss was becoming severe and pancreatic secretion function decreased significantly. One case of carriers had impaired glucose tolerance. Conclusion: It is confirmed that there is a correlation of diabetes with the mitochondrial tRNALeu(UUR) point mutation. |
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