《生命科学》 2018, 30(3): 302-309

核修饰基因突变与线粒体基因突变协同致聋

周璐霞，姜惠雪，郑潮钏，唐霄雯，郑斌娇*

(温州医科大学线粒体生物医学研究院，浙江省医学遗传学重点实验室，温州 325035)

摘　要：摘　要：很多因素，如氨基糖苷类抗生素、核修饰基因等，对mtDNA 突变引起的遗传性聋都具有协同作用，影响耳聋的表型表达。现主要综述MTO1、GTPBP3、TRMU、TFB1M 及YARS2 五种核修饰基因突变协同mtDNA 突变致聋的研究进展及可能致病机制。作为一个可能协同致聋的核修饰基因，致病性YARS2 和肌病、乳酸性酸中毒与铁粒细胞性贫血(MLASA) 临床三联征都有关，该突变会减弱线粒体tRNATyr 的氨基酰化能力。目前，对于该核修饰基因突变协同致聋的机制仍在探索当中。

Mutations of nuclear modified genes and mitochondrial genes cause deafness synergistically

ZHOU Lu-Xia， JIANG Hui-Xue， ZHENG Chao-Chuan， TANG Xiao-Wen， ZHENG Bin-Jiao*

(Zhejiang Provincial Key Laboratory of Medical Genetics， Attardi Institute of
    Mitochondrial Biomedicine， Wenzhou Medical University， Wenzhou 325035， China)

Abstract: Abstract: Factors such as aminoglycoside antibiotics and nuclear modified genes have synergistic effects on genetic deafness caused by mtDNA mutations， and thus affect phenotypic presentation of deafness. Here we mainly discuss the process and probable mechanism of five nuclear modified genes (MTO1， GTPBP3， TRMU， TFB1M and YARS2)，which cause deafness with mitochondria gene mutations synergistically. As a potential deafness factor， YARS2 gene mutations have been reported aassociated with myopathy， lactic acidosis， and iron squamous cell anemia (MLASA)， which will weaken the amino acylation ability of mitochondrial tRNATyr. But now， the mechanism of cooperation between nuclear modified gene mutations and mitochondrial gene mutations still remains unknown.