日本京都大学与美国国立卫生研究院研究人员组成的研究小组日前宣布，他们发现了导致先天性耳聋的遗传性重听（听觉迟钝）的新致病基因。这一成果已刊登在美国《细胞》杂志上。

        研究小组调查了巴基斯坦多个患有重听家族的基因，结果发现被称为“TRIOBP”的基因如果出现变异，就会患上重听。

        遗传性重听的发病率约为1000分之一。迄今虽然已经知道10多个致病基因，但是仍有一些相关基因没有弄清楚。

原文出处：

Cell DOI:10.1016/j.cell.2010.03.049

Actin-Bundling Protein TRIOBP Forms Resilient Rootlets of Hair Cell Stereocilia Essential for Hearing
Shin-ichiro Kitajiri, Takeshi Sakamoto, Inna A. Belyantseva, Richard J. Goodyear, Ruben Stepanyan, Ikuko Fujiwara, Jonathan E. Bird, Saima Riazuddin, Sheikh Riazuddin, Zubair M. Ahmed, Jenny E. Hinshaw, James Sellers, James R. Bartles, John A. Hammer, Guy P. Richardson, Andrew J. Griffith, Gregory I. Frolenkov, Thomas B. Friedman

Inner ear hair cells detect sound through deflection of mechanosensory stereocilia. Each stereocilium is supported by a paracrystalline array of parallel actin filaments that are packed more densely at the base, forming a rootlet extending into the cell body. The function of rootlets and the molecules responsible for their formation are unknown. We found that TRIOBP, a cytoskeleton-associated protein mutated in human hereditary deafness DFNB28, is localized to rootlets. In vitro, purified TRIOBP isoform 4 protein organizes actin filaments into uniquely dense bundles reminiscent of rootlets but distinct from bundles formed by espin, an actin crosslinker in stereocilia. We generated mutant Triobp mice (Triobpex8/ex8) that are profoundly deaf. Stereocilia of Triobpex8/ex8 mice develop normally but fail to form rootlets and are easier to deflect and damage. Thus, F-actin bundling by TRIOBP provides durability and rigidity for normal mechanosensitivity of stereocilia and may contribute to resilient cytoskeletal structures elsewhere.