Navigation Links
Primary cilia formation provides insight into genetic diseases
Date:4/14/2010

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
jlynnsmith@ucsd.edu
619-543-6163
University of California - San Diego
Source:Eurekalert

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:
*Name:
*Comment:
*Email:
(Date:4/5/2017)... 2017 KEY FINDINGS The global ... a CAGR of 25.76% during the forecast period of ... factor for the growth of the stem cell market. ... MARKET INSIGHTS The global stem cell market is ... geography. The stem cell market of the product is ...
(Date:3/30/2017)... The research team of The Hong Kong Polytechnic University (PolyU) ... ground breaking 3D fingerprint minutiae recovery and matching technology, pushing contactless ... use in identification, crime investigation, immigration control, security of access and ... ... A research team led by Dr Ajay Kumar ...
(Date:3/27/2017)... , March 27, 2017  Catholic Health Services ... Management Systems Society (HIMSS) Analytics for achieving Stage ... Model sm . In addition, CHS previously earned ... hospitals using an electronic medical record (EMR). ... high level of EMR usage in an outpatient ...
Breaking Biology News(10 mins):
(Date:4/21/2017)... ... April 21, 2017 , ... ... today announced first round funding to three startups through the UConn Innovation Fund. ... to new business startups affiliated with UConn. , The UConn Innovation Fund provides ...
(Date:4/21/2017)... Muncie, IN (PRWEB) , ... April 21, 2017 , ... ... year to 11 high school graduates from across the nation. The scholarships are created ... of AMA member dues. , Scholarship criteria are set by the AMA Scholarship Committee, ...
(Date:4/21/2017)... ... 2017 , ... Frederick Innovative Technology Center, Inc. (FITCI), a ... recently earned a $77,518 grant from the Rural Maryland Council (RMC) to support ... Frederick’s first incubator. A non-profit corporation, FITCI is a public-private partnership of the ...
(Date:4/20/2017)... TX; Ultrecht, Netherlands (PRWEB) , ... April 20, ... ... Qafis Biometrics Technology today announced their strategic partnership to offer a full ... digital identity authentication, a comprehensive suite of biometric products and the ground-breaking proactive ...
Breaking Biology Technology: