August 10, 2009

Link found between gene and ciliopathies

U.S.-led researchers have discovered a connection between mutations in the INPP5E gene and ciliopathies, a newly emerging group of diseases.

The international team of scientists, led by Dr. Joseph Gleeson, a professor at the University of California-San Diego School of Medicine, said the findings might lead to new therapies for the diseases that are caused by defects in the function or structure of cellular primary cilia, which are small cellular appendages of previously unknown function.

The medical researchers said examples of ciliopathies include mental retardation, retinal blindness, obesity, polycystic kidney disease, liver fibrosis, ataxia and some forms of cancer.

Gleeson and his colleagues showed that when two copies of mutated INPP5E are present in an individual, the result is Joubert syndrome -- a condition marked by mental retardation and impaired balance. They linked the function of the protein that's encoded by the gene to enzymatic conversion of one of the most important signaling molecules in the body, phosphatylinositol, currently one of the main targets of the pharmaceutical industry to treat a host of diseases, including cancer.

The study appears in the online edition of the journal Nature