PI介绍
蒋萍萍
（ 教授 ）
导师类型：博士生导师
专业：儿童遗传性疾病及机理，蛋白进化与重组
邮箱地址：ppjiang@zju.edu.cn
研究方向：
主要从事儿童遗传疾病相关的基因功能与致病机理研究
个人简介
蒋萍萍，博士，浙大医学院/附属儿童医院 教授,博导。主要从事儿童遗传疾病相关的基因功能与致病机理研究，已在J Clin Invest、Nucleic Acids Res、PNAS等期刊发表研究论文，研究工作得到国家科技部、国家自然科学基金委等项目资助。
主要科研项目
代表性论文（#第一作者，*通讯作者）
Li T, Bao Y, Xia Y, Meng H, Zhou C, Huang L, Wang X, Lai EY, Jiang P*, Mao J*. Loss of MTX2 causes mitochondrial dysfunction, podocyte injury, nephrotic proteinuria and glomerulopathy in mice and patients. Int.J. Biol. Sci, 2024, 20(3): 937-952. doi:10.7150/ijbs.89916.
Tong LX, Rao J, Yang CX, Xu J, Lu YJ, Zhang YC, Cang X, Xie S*, Mao J*, Jiang P*. Mutational burden of XPNPEP3 leads to defects in mitochondrial complex I and cilia in NPHPL1. iScience. 2023.26(8):107446.
Xu C, Tong L, Rao J, Ye Q, Chen Y, Zhang Y, Xu J, Mao X, Meng F, Shen H, Lu Z, Cang X, Fu H, Wang S, Gu W, Lai EY, Guan MX*, Jiang P*, Mao J*. Heteroplasmic and homoplasmic m.616T>C in mitochondria tRNAPhe promote isolated chronic kidney disease and hyperuricemia. JCI Insight. 2022:e157418.
Feng J, Yang C, Zhu L, Zhang Y, Zhao X, Chen C, Chen QX, Shu Q*, Jiang P*, Tong F*. Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8. Orphanet J Rare Dis. 2021,16(1):392.
Yang R, Lu Y, Yang C, Wu X, Feng J, Zhu L, Shu Q*, Jiang P*. Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis-10 New Cases of Congenital Hypothyroidism and a Literature Review. Front Genet. 2021,12:694683.
Xu C, Yang C, Ye Q, Xu J, Tong L, Zhang Y, Shen H, Lu Z, Wang J, Lai E*, Mao J*, Jiang P*. Mosaic PKHD1 in Polycystic Kidneys Caused Aberrant Protein Expression in the Mitochondria and Lysosomes. Front Med. 2021,8:743150.
Chen T, Tong F, Wu XY, Zhu L, Yi QZ, Zheng J, Yang RL, Zhao ZY, Cang XH, Shu Q*, Jiang P*. Novel ACADVL variants resulting in mitochondrial defects in long chain acyl-CoA dehydrogenase deficiency. J Zhejiang Univ Sci B. 2020, 21(11):885-896.
Yu J, Liang X, Ji Y, Ai C, Liu J, Zhu L, Nie Z, Jin X, Wang C, Zhang J, Zhao F, Mei S, Zhao X, Zhou X, Zhang M, Wang M, Huang T, Jiang P*, Guan MX*. PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy. J Clin Invest. 2020,130(9):4935-46.
Zhao X, Cui L, Xiao Y, Mao Q, Aishanjiang M, Kong W, Liu Y, Chen H, Hong F, Jia Z, Wang M, Jiang P*, Guan MX*. Hypertension-associated mitochondrial DNA 4401A>G mutation caused the aberrant processing of tRNAMet, all 8 tRNAs and ND6 mRNA in the light- strand transcript. Nucleic Acids Res. 2019, 47(19): 10340-56.
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, 44(22):10974-85.
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, 25(3):584-96.
Zhang D, Jiang P, Xu Q, Zhang X*. Arginine and glutamate-rich 1 (ARGLU1) interacts with mediator subunit 1 (MED1) and is required for estrogen receptor-mediated gene transcription and breast cancer cell growth. J Biol Chem. 2011, 286(20):17746-54.
Jiang P, Hu Q, Ito M, Meyer S, Waltz S, Khan S, Roeder RG, Zhang X*. Key roles for MED1 LxxLL motifs in pubertal mammary gland development and luminal-cell differentiation. Proc Natl Acad Sci USA. 2010, 107(15):6765-70.
代表性著作
《医学遗传学》（本科生）参讲
《研究生科研技能训练》（研究生） 参讲
获奖
2015，浙江省自然科学奖一等奖 “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”（3/5）
2018，省卫生创新人才
