Save
Email
Print
ShareScienceDaily (Sep. 6, 2010) — A new study in the September 6 issue of the Journal of Cell Biology helps define the role of an important ciliary protein, CEP290. The results could be applied toward targeted gene therapy in cilia-related diseases.
Mutations in human CEP290 cause cilia-related disorders that range in severity from isolated blindness to perinatal death. CEP290 mutations are known to cause Meckel syndrome, Joubert syndrome, and NPHP -- the most common syndromic form of cystic kidney disease in childhood -- among others.
Although the exact role of CEP290 has been unclear, a team of researchers from the University of Massachusetts Medical School and Yale University now demonstrate that CEP290 is an integral component of the ciliary "gate" that bridges the transition zone between the cilia and cytoplasm. The protein plays an important role in maintaining the structural integrity of this gate, and thus has a crucial role in maintaining ciliary function.
Other social bookmarking and sharing tools:
Story Source:
The above story is reprinted from materials provided by Rockefeller University Press, via EurekAlert!, a service of AAAS.
Note: Materials may be edited for content and length. For further information, please contact the source cited above.
Journal References:
- Branch Craige, Che-Chia Tsao, Dennis R. Diener, Yuqing Hou, Karl-Ferdinand Lechtreck, Joel L. Rosenbaum, and George B. Witman. CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content. The Journal of Cell Biology, 2010; 190 (5): 927 DOI: 10.1083/jcb.201006105
- Omran et al. NPHP proteins: gatekeepers of the ciliary compartment. The Journal of Cell Biology, 2010; 190 (5): 715 DOI: 10.1083/jcb.201008080
Note: If no author is given, the source is cited instead.
Disclaimer: This article is not intended to provide medical advice, diagnosis or treatment. Views expressed here do not necessarily reflect those of ScienceDaily or its staff.
more 
