Download Gene therapy sniffs out another success

Gene Therapy Sniffs out another Success
Robert M. Frederickson, PhD – Editor, Molecular Therapy
Scientists have successfully treated a mouse model of a congenital human genetic
disorder that causes the inability to smell. The approach uses gene therapy to regrow the cilia that are essential for olfactory function, and was published online in
the 2 September issue of Nature Medicine. Ciliopathies include diseases as diverse as
polycystic kidney disease and retinitis pigmentosa, an inherited, degenerative eye
disease that causes severe vision impairment and blindness. In the olfactory system,
multiple cilia project from olfactory sensory neurons found in the olfactory
epithelium. Receptors that bind odorants are localized on the cilia, which is why a
loss of cilia results in a loss in the ability to smell. The researchers used an
adenoviral vector to introduce a normal copy of the IFT88 gene, the expression of
which was reduced in the mutant mice. The gene plays an important role in
maintaining cilia function in various organ systems. The mice received intranasal
gene delivery over three days and then were allowed 10 days for the transfected
sensory neurons to express the viral-encoded IFT88 protein.
The treatment led to restoration of cilia growth and enabled the mice to respond to
the odorant, amyl nirate. Treatment increased bodyweight by 60 percent, indicating
that the restored olfactory function was motivating feeding.
Adapted from a press release issued by Rice University
Summary In Reference to:
Gene Therapy Rescues Clia Defects and Restores Olfactory Function in a Mammalian
Cliopathy Model
Nature Medicine (2012) doi:10.1038/nm.2860
Received 04 April 2012
Accepted 11 June 2012
Published online 02 September 2012