Featured Research

from universities, journals, and other organizations

Important clue to understanding the pathogenesis of ciliary disorders

Date:
July 26, 2010
Source:
Helmholtz Zentrum Muenchen - German Research Centre for Environmental Health
Summary:
A research team has pinpointed a gene that is essential for the physiologically correct disassembly of cilia. Errors in the regulation of cilia assembly are implicated in a variety of human syndromes. Until now, however, the consequences of faulty cilia disassembly have not yet been elucidated.

If the gene is defective, double and forked cilia develop.
Credit: Developmental Cell

A research team led by Dr. Heiko Lickert of Helmholtz Zentrum München has pinpointed a gene that is essential for the physiologically correct disassembly of cilia. Errors in the regulation of cilia assembly are implicated in a variety of human syndromes. Until now, however, the consequences of faulty cilia disassembly have not yet been elucidated.

The findings are reported in the current issue of the journal Developmental Cell.

Scientists led by Dr. Heiko Lickert, research group leader at the Institute of Stem Cell Research of Helmholtz Zentrum München, have identified the first gene shown to regulate cilia disassembly in a living organism. If the gene is defective, double and forked cilia develop -- thus the name Pitchfork. The consequences of the mutation include typical defects in the left-right asymmetry of body organs and heart failure.

The functional investigations were conducted primarily on the mouse model, together with the Institute of Developmental Genetics and the Department of Protein Analytics of Helmholtz Zentrum München. However, Dr. Lickert and his collaboration partner Nicolas Katsanis of Duke University in the U.S. were also able to show mutations in the Pitchfork gene in patients with ciliary diseases. In humans, the substitution of merely one amino acid in the Pitchfork protein can lead to an inversed position of all internal organs (situs inversus), to kidney and liver diseases, but also to severe heart defects. "Our study" Dr. Lickert said, "provides a new entry point to understand and categorize ciliary disease."

Background

Cilia are hair-like cell protuberances, 5 to 10 µm long and 250 nm thick, which are present in almost all human or animal cells. They function like antennas in the cells and play a pivotal role in the perception of the cellular surroundings and signal transduction.

Defective cilia usually have genetic causes and severe consequences: In recent years more than 30 diseases could be traced to ciliary dysfunctions. These ciliopathies affect numerous organ systems and show diverse clinical symptoms, but the molecular and cellular basis for this is not yet understood. The resulting disorders include developmental defects such as polycystic kidney, liver and pancreas diseases (incidence 1:800) and also heart defects and adiposity. An increased risk for common diseases such as diabetes or cancer is also very probable. Despite the far-reaching significance of cilia, many aspects of the biology of these organelles are not yet known and many questions remain to be answered. These include the regulation of the body's own processes (homeostasis), signal transduction between cells, organ and embryonic development, and the assembly and disassembly of cilia in the different phases of the cell cycle.


Story Source:

The above story is based on materials provided by Helmholtz Zentrum Muenchen - German Research Centre for Environmental Health. Note: Materials may be edited for content and length.


Journal Reference:

  1. Doris Kinzel, Karsten Boldt, Erica E. Davis, Ingo Burtscher, Dietrich Trumbach, Bill Diplas, Tania Attie-Bitach, Wolfgang Wurst, Nicholas Katsanis, Marius Ueffing, and Heiko Lickert. Pitchfork Regulates Primary Cilia Disassembly and Left-Right Asymmetry. Developmental Cell, 2010; 19 (1): 66 DOI: 10.1016/j.devcel.2010.06.005

Cite This Page:

Helmholtz Zentrum Muenchen - German Research Centre for Environmental Health. "Important clue to understanding the pathogenesis of ciliary disorders." ScienceDaily. ScienceDaily, 26 July 2010. <www.sciencedaily.com/releases/2010/07/100722075221.htm>.
Helmholtz Zentrum Muenchen - German Research Centre for Environmental Health. (2010, July 26). Important clue to understanding the pathogenesis of ciliary disorders. ScienceDaily. Retrieved July 23, 2014 from www.sciencedaily.com/releases/2010/07/100722075221.htm
Helmholtz Zentrum Muenchen - German Research Centre for Environmental Health. "Important clue to understanding the pathogenesis of ciliary disorders." ScienceDaily. www.sciencedaily.com/releases/2010/07/100722075221.htm (accessed July 23, 2014).

Share This




More Health & Medicine News

Wednesday, July 23, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Courts Conflicted Over Healthcare Law

Courts Conflicted Over Healthcare Law

AP (July 22, 2014) — Two federal appeals courts issued conflicting rulings Tuesday on the legality of the federally-run healthcare exchange that operates in 36 states. (July 22) Video provided by AP
Powered by NewsLook.com
Why Do People Believe We Only Use 10 Percent Of Our Brains?

Why Do People Believe We Only Use 10 Percent Of Our Brains?

Newsy (July 22, 2014) — The new sci-fi thriller "Lucy" is making people question whether we really use all our brainpower. But, as scientists have insisted for years, we do. Video provided by Newsy
Powered by NewsLook.com
Scientists Find New Way To Make Human Platelets

Scientists Find New Way To Make Human Platelets

Newsy (July 22, 2014) — Boston scientists have discovered a new way to create fully functioning human platelets using a bioreactor and human stem cells. Video provided by Newsy
Powered by NewsLook.com
Gilead's $1000-a-Pill Drug Could Cure Hep C in HIV-Positive People

Gilead's $1000-a-Pill Drug Could Cure Hep C in HIV-Positive People

TheStreet (July 21, 2014) — New research shows Gilead Science's drug Sovaldi helps in curing hepatitis C in those who suffer from HIV. In a medical study, the combination of Gilead's Hep C drug with anti-viral drug Ribavirin cured 76% of HIV-positive patients suffering from the most common hepatitis C strain. Hepatitis C and related complications have been a top cause of death in HIV-positive patients. Typical medication used to treat the disease, including interferon proteins, tended to react badly with HIV drugs. However, Sovaldi's %1,000-a-pill price tag could limit the number of patients able to access the treatment. TheStreet's Keris Lahiff reports from New York. Video provided by TheStreet
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins