Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Primary cilia formation provides insight into genetic diseases

15.04.2010
Identification of protein targets and genes may be key to possible drug therapies for ciliopathies

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.

Additional contributors to the study include Ji Eun Lee of UC San Diego, School of Medicine, Department of Neurosciences; Keiichiro Ono, KiYoung Lee, and Trey Ideker of UC San Diego School of Medicine and Bioengineering; Susanne Heynen, Eigo Suyama, and Pedro Aza-Blanc of Sanford-Burnham Institute for Medical Research.

This study was funded in part by the National Institutes of Health, the National Alliance for Research on Schizophrenia and Depression, and the Howard Hughes Medical Institute.

Jamee Lynn Smith | EurekAlert!
Further information:
http://www.ucsd.edu

More articles from Life Sciences:

nachricht The world's tiniest first responders
21.06.2018 | University of Southern California

nachricht A new toxin in Cholera bacteria discovered by scientists in Umeå
21.06.2018 | Schwedischer Forschungsrat - The Swedish Research Council

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Temperature-controlled fiber-optic light source with liquid core

In a recent publication in the renowned journal Optica, scientists of Leibniz-Institute of Photonic Technology (Leibniz IPHT) in Jena showed that they can accurately control the optical properties of liquid-core fiber lasers and therefore their spectral band width by temperature and pressure tuning.

Already last year, the researchers provided experimental proof of a new dynamic of hybrid solitons– temporally and spectrally stationary light waves resulting...

Im Focus: Overdosing on Calcium

Nano crystals impact stem cell fate during bone formation

Scientists from the University of Freiburg and the University of Basel identified a master regulator for bone regeneration. Prasad Shastri, Professor of...

Im Focus: AchemAsia 2019 will take place in Shanghai

Moving into its fourth decade, AchemAsia is setting out for new horizons: The International Expo and Innovation Forum for Sustainable Chemical Production will take place from 21-23 May 2019 in Shanghai, China. With an updated event profile, the eleventh edition focusses on topics that are especially relevant for the Chinese process industry, putting a strong emphasis on sustainability and innovation.

Founded in 1989 as a spin-off of ACHEMA to cater to the needs of China’s then developing industry, AchemAsia has since grown into a platform where the latest...

Im Focus: First real-time test of Li-Fi utilization for the industrial Internet of Things

The BMBF-funded OWICELLS project was successfully completed with a final presentation at the BMW plant in Munich. The presentation demonstrated a Li-Fi communication with a mobile robot, while the robot carried out usual production processes (welding, moving and testing parts) in a 5x5m² production cell. The robust, optical wireless transmission is based on spatial diversity; in other words, data is sent and received simultaneously by several LEDs and several photodiodes. The system can transmit data at more than 100 Mbit/s and five milliseconds latency.

Modern production technologies in the automobile industry must become more flexible in order to fulfil individual customer requirements.

Im Focus: Sharp images with flexible fibers

An international team of scientists has discovered a new way to transfer image information through multimodal fibers with almost no distortion - even if the fiber is bent. The results of the study, to which scientist from the Leibniz-Institute of Photonic Technology Jena (Leibniz IPHT) contributed, were published on 6thJune in the highly-cited journal Physical Review Letters.

Endoscopes allow doctors to see into a patient’s body like through a keyhole. Typically, the images are transmitted via a bundle of several hundreds of optical...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Munich conference on asteroid detection, tracking and defense

13.06.2018 | Event News

2nd International Baltic Earth Conference in Denmark: “The Baltic Sea region in Transition”

08.06.2018 | Event News

ISEKI_Food 2018: Conference with Holistic View of Food Production

05.06.2018 | Event News

 
Latest News

What are the effects of coral reef marine protected areas?

21.06.2018 | Life Sciences

The Janus head of the South Asian monsoon

21.06.2018 | Earth Sciences

The world's tiniest first responders

21.06.2018 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>