Clinical and Pedigree-based Genetic Analysis of 3 Cases of Mitochondrial Diabetes Mellitus
1.Department of Endocrinology,the First Affiliated Hospital of Anhui Medical University,Hefei 230022,China
2.Department of Endocrinology,Yijishan Hospital of Wannan Medical College,Wuhu 241001,China
3.Department of Endocrinology,Lu'an People's Hospital,Lu'an 237000,China
*Corresponding author:HU Honglin,Chief physician,Master supervisor,Main research in endocrinology and metabolism;E-mail:hhlin1994@sina.com
[1]NAING A,KENCHAIAH M,KRISHNAN B,et al.Maternally inherited diabetes and deafness (MIDD):diagnosis and management[J].J Diabetes Complicat,2014,28(4):542-546.DOI:10.1016/j.jdiacomp.2014.03.006.
[2]项坤三.特殊类型糖尿病[M].上海:上海科学技术出版社,2011:261-273.
[3]翁建平.线粒体基因突变糖尿病的现状及筛查与诊治的建议[J].中华医学杂志,2005,85(28):1951-1956.
[4]王遂军,吴松华,郑泰山,等.线粒体tRNA^Leu(UUR)基因nt3243A→G突变糖尿病临床特点分析[J].中华医学遗传学杂志,2009,26(2):191-195.
WANG S J,WU S H,ZHENG T S,et al.Prevalence and clinical characteristics of the mitochondrial tRNA^Leu(UUR) gene 3243 A to G mutation in familial diabetes mellitus in Chinese population[J].Chinese Journal of Medical Genetics,2009,26(2):191-195.
[5]VAN DEN OUWELAND J M,LEMKES H H,RUITENBEEK W,et al.Mutation in mitochondrial tRNA Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness[J].Nat Genet,1992,1(5):368-371.DOI:10.1038/ng0892-368.
[6]项坤三,陆惠娟,吴松华,等.线粒体tRNA Leu(UUR)基因突变糖尿病的基因诊断[J].中华医学杂志,1995,75(4):216-219.http://www.cnki.com.cn/Article/CJFDTotal-ZHNF200204013.htm.
[7]殷峻,包玉倩.线粒体糖尿病的临床特征与应对[J].中华糖尿病杂志,2017,6(9):342-345.http://d.old.wanfangdata.com.cn/Periodical/zhtnb201706002.
[8]OLMOS P R,BORZONE G R,OLMOS J P,et al.Mitochondrial diabetes and deafness:possible dysfunction of strial marginal cells of the inner ear[J].J Otolaryngol Head Neck Surg,2011,40(2):93-103.
[9]RAUT V,SINNATHURAY A R,TONER J G.Cochlear implantation in maternal inherited diabetes and deafness syndrome[J].J Laryngol Otol,2002,116(5):373-375.DOI:10.1258/0022215021910825.
[10]李莉,胡纯,孙林.线粒体与胰岛β细胞研究进展[J].临床与病理杂志,2016,36(6):830-841.
LI L,HU C,SUN L.Progress in the study on mitochondrial regulation of pancreatic β-cell function[J].Journal of Clinical and Pathological Research,2016,36(6):830-841.
[11]王晓兵,叶山东.二甲双胍相关性乳酸酸中毒的研究进展[J].安徽医学,2014,35(1):130-133.http://www.cnki.com.cn/Article/CJFDTOTAL-AHYX201401052.htm.
[12]NINOMIYA H,HIRATA A,KOZAWA J,et al.Treatment of mitochondrial diabetes with a peroxisome proliferator-activated receptor (PPAR)-Gamma agonist[J].Intern Med,2016,55(9):1143-1147.DOI:10.2169/internalmedicine.55.4418.
[13]TSAI H Y,LIN C P,HUANG P H,et al.Coenzyme Q10 attenuates high glucose-induced endothelial progenitor cell dysfunction through AMP-activated protein kinase pathways[J].J Diabetes Res,2016,2016:6384759.DOI:10.1155/2016/6384759.
[14]LIU J.The effects and mechanisms of mitochondrial nutrient alpha-lipoic acid on improving age-associated mitochondrial and cognitive dysfunction:an overview[J].Neurochem Res,2008,33(1):194-203.DOI:10.1007/s11064-007-9403-0.
[15]TACHIBANA M,AMATO P,SPARMAN M,et al.Towards germline gene therapy of inherited mitochondrial diseases[J].Nature,2013,493(7434):627-631.DOI:10.1038/nature11647.
[16]TONIN Y,HECKEL A M,VYSOKIKH M,et al.Modeling of antigenomic therapy of mitochondrial diseases by mitochondrially addressed RNA targeting a pathogenic point mutation in mitochondrial DNA[J].J Biol Chem,2014,289(19):13324-13334.