日本京都大學(xué)與美國國立衛(wèi)生研究院研究人員組成的研究小組日前宣布，他們發(fā)現(xiàn)了導(dǎo)致先天性耳聾的遺傳性重聽（聽覺遲鈍）的新致病基因,。這一成果已刊登在美國《細胞》雜志上,。
研究小組調(diào)查了巴基斯坦多個患有重聽家族的基因，結(jié)果發(fā)現(xiàn)被稱為“TRIOBP”的基因如果出現(xiàn)變異,，就會患上重聽,。
遺傳性重聽的發(fā)病率約為1000分之一。迄今雖然已經(jīng)知道10多個致病基因,，但是仍有一些相關(guān)基因沒有弄清楚,。（生物谷Bioon.com）
生物谷推薦原文出處：
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.
