ll divides. If the amount of the IFT protein is kept low experimentally, the cells will not divide, and will die.
Understanding the IFT process has also led to discoveries on causes of conditions like situs inversus, a condition in which the heart or other organs grow on the wrong side of the body’s midline during embryonic development. Rosenbaum’s colleague in pediatric cardiology, Associate Professor Martina Brueckner, has shown that the presence of cilia in the embryonic nodal region is directly related to this condition; if the cilia are missing or not functioning, situs inversus results. In the mutant mouse with defective or missing cilia, situs inversus occurs as well as PKD in many cases. Many of these mice are also blind, because the rod outer segments of the retina form from cilia during embryogenesis, and are maintained in adults by IFT in a piece of the cilium in the adult rod cell.
Finally, a complex of diseases called Bardet-Biedl Syndrome (BBS), which can manifest itself in diabetes, polydactyly, and obesity, all stem from defects in the cilia or the ciliary basal body/centriole. “It seems as though, each month a new disease is shown to have its origin in these oft-neglected cell organelles,” said Rosenbaum.”
The exciting thing, Rosenbaum feels, is that all of this work relating to human diseases began with studies initiated on flagellar assembly in a green alga. It is an example of the continuity of life, or as Rosenbaum says, “If you’ve seen one cilium, you have [almost] seen them all.”
Rosenbaum is the seventh member of the Yale faculty to receive the Wilson Award, In 2005, Joan A. Steitz, Sterling Professor of Molecular Biophysics & Biochemistry and Investigator of the Howard Hugnes Medical Institute, received the award for her work on small nuclear ribonucleoproteins, known now as SnRNPs. In 2004, Thomas D. Pollard, Sterling Professor and Chair of the Department of Molecular Cellular & Developmental BiPage: 1 2 3 4 5 Related medicine news :1
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