Important Clue to Understanding the Pathogenesis of Ciliary Disorders

http://insciences.org/article.php?article_id=9318

Neuherberg, July 21, 2010). A research team led by Dr. Heiko Lickert of Helmholtz Zentrum München has pinpointed a gene that is essential for the physiologically correct disassembly of cilia. Errors in the regulation of cilia assembly are implicated in a variety of human syndromes. Until now, however, the consequences of faulty cilia disassembly have not yet been elucidated. The findings are reported in the current issue of the prestigious journal Developmental Cell.

Scientists led by Dr. Heiko Lickert, research group leader at the Institute of Stem Cell Research of Helmholtz Zentrum München, have identified the first gene shown to regulate cilia disassembly in a living organism. If the gene is defective, double and forked cilia develop – thus the name Pitchfork. The consequences of the mutation include typical defects in the left-right asymmetry of body organs and heart failure.