PTPRQ基因的内耳功能及突变致聋机制的研究进展

Advances in Research on Function of PTPRQ Gene in Inner Ear and Mechanisms of Hearing Loss Caused by PTPRQ Mutation

受体型蛋白酪氨酸磷酸酶Q(Receptor type protein tyrosine phosphatase Q,PTPRQ)作为一种蛋白酪氨酸磷酸酶,能催化不同的底物,参与多种细胞内的功能。PTPRQ基因突变可导致常染色体隐性和显性非综合征性耳聋DFNB84A型和DFNA73型耳聋的发生,两型耳聋的临床表型差异提示了其致病机制的不同。在内耳,PTPRQ主要位于前庭及耳蜗毛细胞纤毛基底部,参与耳蜗毛细胞纤毛束的成熟,对维持纤毛的形态和功能具有重要作用。目前世界上报道的与PTPRQ突变相关的耳聋家系有14个,多数隐性突变是因截短或缺失而影响了PTPRQ的酶结构域的功能,但是PTPRQ的显性突变致病机理仍不清楚。有关该基因显、隐性突变致病机制的更深入研究可为相关病例的针对性干预提供理论依据。

Receptor type protein tyrosine phosphatase Q(PTPRQ)as a protein tyrosine phosphatase,is able to catalyze different substrates and it is involved in a variety of cell functions.PTPRQ mutations cause both autosomal recessive and dominant hearing loss DFNB84A and DFNA73,and the clinical differences between two kinds of hearing loss suggest different disease-causing mechanisms.In the inner ear,PTPRQ locates in the basal region of the hair cell stereocilia,participates the hair bundle maturation and it is important for maintaining the morphology and function of stereocilia.There have been reported 14 PTPRQ mutation-related hearing loss families so far.Most of the recessive mutations are truncation or deletion of the catalytic domain that may affect PTPRQ function,however,the mechanism of PTPRQ mutation-caused dominant hearing loss is still unclear.To deeply study the different mechanisms of PTPRQ mutation-caused dominant and recessive hearing loss will help researchers to provide information for finding suitable targeted intervention methods.