毛细胞退化相关耳聋基因及其病理机制探讨

遗传性聋的遗传异质性是由几百个蛋白编码基因决定的.无论耳聋程度的轻还是重,不同遗传背景的耳聋患者中均发现相关基因突变.在许多文献报道中,利用细胞培养技术以及小鼠等动物模型可部分解释基因突变致聋的分子机制.这些基因的发现不仅为一些可能伴有临床症状的耳聋病例提供诊断依据,也为耳聋家庭提供生育指导.其中,与毛细胞的退化(尤其是外毛细胞)相关的基因突变可直接导致耳聋的发生.本文选取DFNB28、DFNA51、DFNA50等与毛细胞退化相关的耳聋基因来阐述其病理机制及研究进展.

Research about deafness genes associated with hair cell degeneration from mutation to mechanism

The genetic heterogeneity of hereditary hearing loss is known produced by hundreds of genes expression,these genes encode a large number of different proteins.We can find mutations in different phenotype(Syndromic hearing loss and Non-Syndromic hearing loss),range from mild to profound.Using cell culture technique and Mice or other animal models can explain a part of the molecular mechanism of mutations causing hearing loss.The discovery of the genes has compeletly changed the practice of hereditary consulting,not only provide diagnostic basis for paitents with clinical symptoms,but also provide Genetic guidance for deafness families.This article mainly talks about the Pathological mechanism of deafness genes associated with hair cell degeneration.