Latest Ciliopathy Stories

Studies investigate the potential of several drugs for the treatment of patients with diabetes or kidney disease Three late-breaking studies presented during the American Society of Nephrology's Annual Kidney Week provide new information on drugs being tested in patients with diabetes or kidney disease. Hans-Henrik Parving, MD (University of Copenhagen, in Denmark) and his colleagues investigated whether the drug aliskiren might improve the prognosis of patients with type 2 diabetes who...

Tiny organelles called primary cilia hold the key to combat inflammation Scientists from Queen Mary, University of London have found a new therapeutic target to combat inflammation. The research, published in the journal Cellular and Molecular Life Sciences, revealed tiny organelles called primary cilia are important for regulating inflammation. The findings could lead to potential therapies for millions of people who suffer from arthritis. Dr Martin Knight who led the research at...

Primary cilia are hair-like structures which protrude from almost all mammalian cells. They are thought to be sensory and involved in sampling the cell's environment. New research, published in BioMed Central's open access journal Cilia, launched today, shows that cilia on cells in the retina and liver are able to make stable connections with each other - indicating that cilia not only are able to sense their environment but are also involved in cell communication. Primary cilia are...

Research presented at ASCB annual meeting After a four-week course of the vasodilator hormone relaxin, kidney function and blood flow immediately improved in lab rats genetically altered to model polycystic kidney disease (PKD), a life-threatening genetic disorder, according to research presented on Dec. 6 at the American Society for Cell Biology Annual Meeting in Denver. In addition to widening the blood vessels, relaxin lowered the collagen scores of the PKD rats, indicating that the...

Research presented at ASCB annual meeting Is obesity a ciliopathy, a disorder such as polycystic kidney disease (PKD), which is triggered by a defect in the microscopic hair-like cilia that protrude from virtually every cell of humans and other vertebrates? University of Alabama, Birmingham (UAB) researchers told the American Society for Cell Biology (ASCB) 2011 Annual Meeting in Denver on Dec. 6 that mutations in primary cilia may scramble signaling pathways in the hypothalamus, the...

Discovery points to a potential co-contributor to cilia-related diseasesResearchers at the University of Massachusetts Medical School have described a previously unknown role for the cilia protein IFT88 in mitosis, the process by which a dividing cell separates its chromosomes containing the cell's DNA into two identical sets of new daughter cells. Published in advance online by Nature Cell Biology, this newly discovered function for IFT88 suggests a possible alternative or contributory cause...

Despite what you might have heard, genetic sequencing alone is not enough to understand human disease. Researchers at Duke University Medical Center have shown that functional tests are absolutely necessary to understand the biological relevance of the results of sequencing studies as they relate to disease, using a suite of diseases known as the ciliopathies which can cause patients to have many different traits."Right now the paradigm is to sequence a number of patients and see what...

A new study in the September 6 issue of the Journal of Cell Biology (www.jcb.org) helps define the role of an important ciliary protein, CEP290. The results could be applied toward targeted gene therapy in cilia-related diseases.Mutations in human CEP290 cause cilia-related disorders that range in severity from isolated blindness to perinatal death. CEP290 mutations are known to cause Meckel syndrome, Joubert syndrome, and NPHP"”the most common syndromic form of cystic kidney disease in...

Nearly all mammalian cells have what's called a primary cilium "” a single, stump-like rod projecting from the smooth contours of the cell's outer membrane. Unlike its more flamboyant cousins, the motile cilia, which beat industriously in packs to clear our airways of mucous or to shuttle a fertilized egg to the uterus, the primary cilium just "¦ sits there.Like a bump on a log.In fact, it looks so useless that, until recently, many scientists considered it to be just a leftover artifact...

An international team of scientists, led by researchers at the University of California, San Diego School of Medicine have discovered new links between a common form of inherited blindness affecting children and a gene known as Abelson helper integration site-1 (AHI1). Their findings, which may lead to new therapies and improved diagnostics for retinal disease, will appear online in advance of publication in the journal Nature Genetics on January 17.A newly recognized class of disease known...