PTPRQ基因的内耳功能及突变致聋机制的研究进展

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...

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

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.