Gene therapy restores sense of smell
Nature Medicine
2012년9월3일
A gene therapy approach for restoring cilia development and olfactory responses is reported online this week in Nature Medicine. These findings provide a proof-of-principle that gene therapy may be used in certain genetic disorders to rescue cilia development and restore sensory function.
Ciliopathies are a group of genetic disorders caused by defects in the formation or function of cilia, which are organelles that protrude from the surface of cells. Sensory defects, including blindness, and loss of hearing or smell may accompany these disorders.
Jeffrey R. Martens and colleagues find a mutation in Intraflagellar Transport Protein 88 (IFT88) that is associated with human ciliopathies. Mice deficient in this protein have shortened and malformed cilia on neurons within the nose and are unable to perceive odors. The team shows that delivery of adenoviral vectors expressing IFT88 into the nose of these mutant mice rescues cilia defects and neuronal responses to odorant molecules. They also discover that gene therapy restores suckling and feeding behaviors that are mediated by olfactory function in these mice.
doi: 10.1038/nm.2860
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