教育背景

1979.9-1983.7   杭州大学生物系  本科

1989.10-1993.7  澳大利亚国立大学 生物化学与分子生物学博士研究生

工作经历

1983.8-1989.9   浙江图书馆  馆员

1993.8-1996.7   加州理工学院生物系 Research Fellow

1996.8-1999.7   加州理工学院生物系 Senior Research Fellow

1999.8-2011.9   辛辛那提大学儿童医院医学中心人类遗传学助理教授、副教授、教授

2011.1-2013.11  浙江大学生命科学学院   院长

2011.1-2015.2   浙江大学生命科学学院教授, 遗传学研究所所长

2015.3-至今    浙江大学医学院 教授, 遗传学研究所所长

2015.4-至今    浙江大学医药学部 副主任

工作研究领域 

"973"计划项目首席科学家。长期从事线粒体遗传学和母系遗传性疾病的基础研究和临床转化。曾经获得5项美国国立卫生研究院（NIH）基金资助。自2011年全职回国后，主持国家重点基础研究发展计划（973计划），“十二五”国家科技支撑计划，国家自然科学基金重点项目等多项课题。已在母系遗传性聋病、高血压和Leber遗传性视神经病变致病机理和tRNA转录后修饰的机制等领域发表论文共174篇，其中在Cell， Am J Hum Genet，Hum Mol Genet，Circulation Research，Ophthalmology等本领域国际权威学术期刊上发表SCI论文100多篇。曾获国家科技进步二等奖、谈家桢生物科学创新奖等多项奖励。主编出版《医学遗传学》等教材。 

研究成果

2015年度《线粒体功能障碍在母系遗传性高血压和聋病中的致病作用机制研究》浙江省科学技术奖, 一等奖

2009年度《母系遗传药物性耳聋致病机制研究及干预》中华医学科技奖, 二等奖

2009年度《母系遗传药物性耳聋致病机制的研究》浙江省科学技术奖, 一等奖

2008年度《聋病发生的分子机制与防控预警的系统研究》国家科技进步奖, 二等奖

2007年度《Leber氏遗传性视神经萎缩遗传性状研究》，国家科技进步奖, 二等奖

知识产权-授权专利

(1) 管敏鑫，蒋萍萍，冀延春，郎秋雷，张娟娟，梁敏，遗传性视神经病变基因检测

方法、基因芯片和试剂盒，2015.7.29，中国，CN201510218173.5

(2) 管敏鑫，蒋萍萍，冀延春，郑静，梁敏，龚莎莎，徐静，检测耳聋相关的线粒体

T12201C突变试剂盒及应用，2013.9.11，中国，CN201310172065.X

(3) 管敏鑫，蒋萍萍，冀延春，肖云，刘浩，检测高血压相关的线粒体DNA

A4263G突变的试剂盒及应用，2013.4.10，中国，CN201210546972.1

(4) 管敏鑫，蒋萍萍，冀延春，郑静，梁敏，徐静，检测耳聋相关线粒体T7505C突变

的试剂盒及应用，2013.8.28，中国，CN201310172063.0

(5) 管敏鑫，蒋萍萍，冀延春，肖云，郑静，梁敏，毛卓超，黄杨熠艺，检测高血压

相关的线粒体T4353C突变试剂盒及应用，2013.9.11，中国，CN201310133673.X

(6) 管敏鑫，蒋萍萍，冀延春，肖云，郑静，梁敏，毛卓超，黄杨熠艺，检测高血压

相关的线粒体T5655C突变试剂盒及应用，2013.9.11，中国，CN201310133675.9

(7) 管敏鑫，吕建新，李智渊，朱翌，杨爱芬，郑静，唐霄雯，王金丹，用于同时检

测线粒体DNA A1555G和C1494T突变的试剂盒及其使用方法，2012.01.04，中国，CN200910223263.8

代表性论文(近五年，*通讯作者)

1)Zhang J, Liu X, Liang X, Lu Y, Zhu L, Fu R, Ji Y, Fan W, Chen J, Lin B, Yuan Y, Jiang P, Zhou X, Guan MX*.A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis. Sci Rep. 2017 Jul 18;7(1):5704. 

2)Zhou M, Wang M, Xue L, Lin Z, He Q, Shi W, Chen Y, Jin X, Li H, Jiang P, Guan MX*. A hypertension-associated mitochondrial DNA mutation alters the tertiary interaction and function of tRNALeu(UUR). J Biol Chem. 2017 Jul 5. pii: jbc.M117.787028. 

3)Chen X, Nie Z, Wang F, Wang J, Liu XW, Zheng J, Guo YF, Guan MX*. Late onset nonsyndromic hearing loss in a Dongxiang Chinese family is associated with the 593T>C variant in the mitochondrial tRNAPhe gene. Mitochondrion. 2017 Jul;35:111-118. 

4)Meng F, Cang X, Peng Y, Li R, Zhang Z, Li F, Fan Q, Guan AS, Fischel-Ghosian N, Zhao X*, Guan MX*. Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation. J Biol Chem. 2017 Feb 17;292(7):2881-2892. 

5)Xue L, Wang M, Li H, Wang H, Jiang F, Hou L, Geng J, Lin Z, Peng Y, Zhou H, Yu H, Jiang P, Mo JQ, Guan MX*. Mitochondrial tRNA mutations in 2070 Chinese Han subjects with hypertension. Mitochondrion. 2016 Sep;30:208-21. 

6)Wang M, Peng Y, Zheng J, Zheng B, Jin X, Liu H, Wang Y, Tang X, Huang T, Jiang P*, Guan MX*. A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function. Nucleic Acids Res. 2016 Dec 15;44(22):10974-10985. 

7)Wang M, Liu H, Zheng J, Chen B, Zhou M, Fan W, Wang H, Liang X, Zhou X, Eriani G, Jiang P, Guan MX*. A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction. J Biol Chem. 2016 Sep 30;291(40):21029-21041. 

8)Jiang P, Liang M, Zhang C, Zhao X, He Q, Cui L, Liu X, Sun YH, Fu Q, Ji Y, Bai Y, Huang T, Guan MX*. Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. Hum Mol Genet. 2016 Aug 15;25(16):3613-3625. 

9)Chen D, Li F, Yang Q, Tian M, Zhang Z, Zhang Q, Chen Y, Guan MX*. The defective expression of gtpbp3 related to tRNA modification alters the mitochondrial function and development of zebrafish. Int J Biochem Cell Biol. 2016 Aug;77(Pt A):1-9.

10)Ji Y, Liang M, Zhang J, Zhu L, Zhang Z, Fu R, Liu X, Zhang M, Fu Q, Zhao F, Tong Y, Sun Y, Jiang P*, Guan MX*. Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's Hereditary Optic Neuropathy. Invest Ophthalmol Vis Sci. 2016 May 1;57(6):2377-89.

11)Jiang P, Wang M, Xue L, Xiao Y, Yu J, Wang H, Yao J, Liu H, Peng Y, Liu H, Li H, Chen Y, Guan MX*. A Hypertension-Associated tRNAAla Mutation Alters tRNA Metabolism and Mitochondrial Function. Mol Cell Biol. 2016 Jun 29;36(14):1920-30. 

12)Jiang P, Jin X, Peng Y, Wang M, Liu H, Liu X, Zhang Z, Ji Y, Zhang J, Liang M, Zhao F, Sun YH, Zhang M, Zhou X, Chen Y, Mo JQ, Huang T, Qu J, Guan MX*. The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. Hum Mol Genet. 2016 Feb 1;25(3):584-96. 

13)Jiang P, Liang M, Zhang J, Gao Y, He Z, Yu H, Zhao F, Ji Y, Liu X, Zhang M, Fu Q, Tong Y, Sun Y, Zhou X, Huang T, Qu J, Guan MX*. Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy. Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4778-88.

14)Tang X, Zheng J, Ying Z, Cai Z, Gao Y, He Z, Yu H, Yao J, Yang Y, Wang H, Chen Y, Guan MX*. Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss. Mitochondrion. 2015 Jul;23:17-24.

15)Liu H, Li R, Li W, Wang M, Ji J, Zheng J, Mao Z, Mo JQ, Jiang P, Lu J, Guan MX*. Maternally inherited diabetes is associated with a homoplasmic T10003C mutation in the mitochondrial tRNA(Gly) gene. Mitochondrion. 2015 Mar;21:49-57.

16)Zhang J, Jiang P, Jin X, Liu X, Zhang M, Xie S, Gao M, Zhang S, Sun YH, Zhu J, Ji Y, Wei QP, Tong Y, Guan MX*. Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families. Mitochondrion. 2014 Sep;18:18-26.

17)Gong S, Peng Y, Jiang P, Wang M, Fan M, Wang X, Zhou H, Li H, Yan Q, Huang T, Guan MX*. A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential. Nucleic Acids Res. 2014 Jul;42(12):8039-48. 

18)Qin Y, Xue L, Jiang P, Xu M, He Y, Shi S, Huang Y, He J, Mo JQ, Guan MX*. Mitochondrial tRNA variants in Chinese subjects with coronary heart disease. J Am Heart Assoc. 2014 Jan 27;3(1):e000437.

19)Ji Y, Liang M, Zhang J, Zhang M, Zhu J, Meng X, Zhang S, Gao M, Zhao F, Wei QP, Jiang P, Tong Y, Liu X, Qin Mo J, Guan MX*. Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families. J Hum Genet. 2014 Mar;59(3):134-40.

20)Liang M, Jiang P, Li F, Zhang J, Ji Y, He Y, Xu M, Zhu J, Meng X, Zhao F, Tong Y, Liu X, Sun Y, Zhou X, Mo JQ, Qu J, Guan MX*. Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci. 2014 Mar 6;55(3):1321-31.

21)Jia Z, Wang X, Qin Y, Xue L, Jiang P, Meng Y, Shi S, Wang Y, Qin Mo J, Guan MX*. Coronary heart disease is associated with a mutation in mitochondrial tRNA. Hum Mol Genet. 2013 Oct 15;22(20):4064-73.

22)Zhang J, Zhao F, Fu Q, Liang M, Tong Y, Liu X, Lin B, Mi H, Zhang M, Wei QP, Xue L, Jiang P, Zhou X, Mo JQ, Huang T, Qu J, Guan MX*. Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families. Mitochondrion. 2013 Nov;13(6):772-81. 

23)Zhou X, Qian Y, Zhang J, Tong Y, Jiang P, Liang M, Dai X, Zhou H, Zhao F, Ji Y, Mo JQ, Qu J, Guan MX*. Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families. Invest Ophthalmol Vis Sci. 2012 Jul 9;53(8):4586-94. 

24)Qiu Q, Li R, Jiang P, Xue L, Lu Y, Song Y, Han J, Lu Z, Zhi S, Mo JQ,Guan MX*. Mitochondrial tRNA mutations are associated with maternally inherited hypertension in two Han Chinese pedigrees. Hum Mutat. 2012 Aug;33(8):1285-93. 

25)Zheng J, Ji Y, Guan MX*. Mitochondrial tRNA mutations associated with deafness. Mitochondrion. 2012 May;12(3):406-13. 

Chen H, Zheng J, Xue L, Meng Y, Wang Y, Zheng B, Fang F, Shi S, Qiu Q, Jiang P, Lu Z, Mo JQ, Lu J, Guan MX*. The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees. Eur J Hum Genet. 2012 Jun;20(6):607-12.