Navigation Links
Primary cilia formation provides insight into genetic diseases

A team of scientists at the University of California, San Diego School of Medicine have identified a network of genes that initiate and manage cilia formation. Although scientists have known about cilia for decades, only recently have they discovered their role in disease. This new discovery, which may lead to new therapies for ciliopathies, will appear in the April 15 edition of Nature.

Primary cilia are small, hair-like appendages attached to the surface of human cells. They act like antennae, sensing and evaluating extracellular signals to coordinate the development and stability of a wide variety of organs. Ciliopathies are a newly emerging group of genetic diseases caused by defects in the function or structure of cellular primary cilia. These diseases present symptoms such as mental retardation, retinal blindness, obesity, polycystic kidney disease, liver fibrosis, ataxia and some forms of cancer.

The scientists, led by Joe Gleeson, MD, professor of neurosciences and pediatrics at UC San Diego and a Howard Hughes Medical Institute Investigator, and Joon Kim, a UC San Diego postdoctoral fellow, utilized a high-throughput, cell-based screen to evaluate the impact of more than 8,000 genes and their relation to cilia function and development.

"Utilizing high-throughput screening, we were able view a wider array of the genes implicated in ciliopathies and enact systematic approaches, which enabled us to gain deeper insight into the molecular mechanisms of cilia formation," said Gleeson.

Additional investigation revealed that the endocytic recycling pathway, which absorbs and processes plasma membrane, also plays a key role in primary cilia formation. The scientists also identified protein groups that are key modulators between cilia and the endocytic recycling pathway. These findings suggest that there are specific protein targets for the development of ciliopathy therapy, according to Gleeson.

When cytochalasin D, a small molecule which permeates cells and inhibits cytoskeleton polymerization, was applied to one of the identified proteins, it repaired cilium formation in cells carrying mutations.

"While the use of cytochalasin D is not a viable solution in patients because of its toxicity, we now know that pharmacological solutions for ciliopathy exist," said Kim.

The research team intends to continue searching for "cleaner" small molecules, which can be utilized for ciliopathy treatment.


Contact: Jamee Lynn Smith
University of California - San Diego

Related biology news :

1. UNH becomes first university in nation to use landfill gas as primary energy source
2. Single-largest biodiversity survey says primary rainforest is irreplaceable
3. New type of drug shrinks primary breast cancer tumors significantly in just 6 weeks
4. Some skin cancer may be mediated by primary cilia activity
5. Primary product
6. Cilia: small organelles, big decisions
7. NYU scientists identify critical protein complex in formation of cell cilia
8. Sicilian word enters British genetic language
9. Researcher awarded $1.2 million grant to study centrosomes and cilia
10. BBS proteins shown to run an export business that protects cilia
11. BIO-key(R) Appoints Cecilia Welch as Chief Financial Officer
Post Your Comments:
(Date:4/28/2016)... , April 28, 2016 Infosys ... (NYSE: INFY ), and Samsung SDS, a global ... that will provide end customers with a more secure, fast ...      (Logo: ) , ... but it also plays a fundamental part in enabling and ...
(Date:4/15/2016)... 15, 2016  A new partnership announced today ... underwriting decisions in a fraction of the time ... and high-value life insurance policies to consumers without ... With Force Diagnostics, rapid testing (A1C, Cotinine and ... (blood pressure, weight, pulse, BMI, and activity data) ...
(Date:3/31/2016)... March 31, 2016  Genomics firm Nabsys has completed ... Barrett Bready , M.D., who returned to the ... original technical leadership team, including Chief Technology Officer, ... Development, Steve Nurnberg and Vice President of Software and ... company. Dr. Bready served as CEO of ...
Breaking Biology News(10 mins):
(Date:6/27/2016)... (PRWEB) , ... June 27, 2016 , ... ... operations for Amgen, will join the faculty of the University of North ... adjunct professor of strategy and entrepreneurship at UNC Kenan-Flagler, with a focus on ...
(Date:6/24/2016)... , June 24, 2016 Epic ... sensitively detects cancers susceptible to PARP inhibitors by ... tumor cells (CTCs). The new test has already ... therapeutics in multiple cancer types. Over ... DNA damage response pathways, including PARP, ATM, ATR, ...
(Date:6/23/2016)... ... June 23, 2016 , ... UAS LifeSciences, one ... of their brand, UP4™ Probiotics, into Target stores nationwide. The company, which has ... add Target to its list of well-respected retailers. This list includes such fine ...
(Date:6/23/2016)... -- Houston Methodist Willowbrook Hospital has signed a ... serve as their official health care provider. As ... provide sponsorship support, athletic training services, and most ... athletes and families. "We are excited ... to bring Houston Methodist quality services and programs ...
Breaking Biology Technology: