纤毛紊乱症发病机理之重要线索被发现-凯发k8官网

scientists led by dr. heiko lickert, research group leader at the institute of stem cell research of helmholtz zentrum münchen, have identified the first ¹ shown to regulate cilia（纤毛，睫毛） disassembly in a living organism. if the gene is ²（有缺陷的，不完美的） , double and forked cilia develop – thus the name pitchfork. the consequences of the ³ include typical defects in the left-right ⁴（不对称） of body organs and heart failure. the ^{5 6} were conducted primarily on the mouse model, together with the institute of developmental genetics and the department of protein analytics of helmholtz zentrum münchen. however, dr. lickert and his ⁸ partner nicolas katsanis of duke university in the u.s. were also able to show mutations in the pitchfork gene in patients with ciliary diseases. in humans, the substitution of merely one amino acid（氨基酸） in the pitchfork protein can lead to an ⁹（倒生的） position of all internal organs (situs inversus内脏逆位), to kidney and liver diseases, but also to severe heart defects. "our study" dr. lickert said, "provides a new entry point to understand and categorize ciliary disease."

background:

cilia are hair-like cell protuberances, 5 to 10 µm long and 250 nm thick, which are present in almost all human or animal cells. they function like ¹⁰（天线，触角） in the cells and play a pivotal role（关键作用） in the perception of the ¹¹ surroundings and signal transduction（转导，转换） .

defective cilia usually have ⁷ causes and severe consequences: in recent years more than 30 diseases could be traced to ciliary dysfunctions（功能紊乱，机能障碍） . these ciliopathies affect numerous organ systems and show diverse clinical symptoms, but the ¹² and cellular basis for this is not yet understood. the resulting ¹³ include developmental defects such as polycystic kidney（多囊肾） , liver and pancreas（胰腺） diseases (incidence 1:800) and also heart defects and ¹⁴（肥胖） . an increased risk for common diseases such as ¹⁵ or cancer is also very probable. despite the far-reaching significance of cilia, many aspects of the biology of these organelles are not yet known and many questions remain to be answered. these include the regulation of the body's own processes (homeostasis体内平衡), signal transduction between cells, organ and ¹⁶ development, and the assembly and disassembly of cilia in the different phases of the cell cycle.