Lights on for aminopeptidases in cystic kidney disease.
Authors Bottinger EP
Submitted By Erwin Bottinger on 8/1/2012
Status Published
Journal The Journal of clinical investigation
Year 2010
Date Published 3/1/2010
Volume : Pages 120 : 660 - 663
PubMed Reference 20179346
Abstract While erudite cell biologists have for many decades described singular immotile
appendages known as primary cilia to be present on most cells in our bodies,
cilial function(s) long remained an enigma. Driven largely by an ever increasing
number of discoveries of genetic defects in primary cilia during the past
decade, cilia were catapulted from a long lasting existence in obscurity into
the bright spotlight in cell biology and medicine. The study by O'Toole et al.
in this issue of the JCI adds a novel "enzymatic" facet to the rapidly growing
information about these little cellular tails, by demonstrating that defects in
the XPNPEP3 gene, which encodes mitochondrial and cytosolic splice variants of
X-prolyl aminopeptidase 3, can cause nephronophthisis-like ciliopathy. Future
studies are in order now to elucidate the cystogenic pathways affected by
disrupted enzymatic function of XPNPEP3 in cilia-related cystogenic diseases.

Investigators with authorship
Erwin BottingerMount Sinai School of Medicine