Navigation Links
Important clue to understanding the pathogenesis of ciliary disorders
Date:7/22/2010

Scientists led by Dr. Heiko Lickert, research group leader at the Institute of Stem Cell Research of Helmholtz Zentrum Mnchen, 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 Mnchen. 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 m 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.


'/>"/>

Contact: Sven Winkler
presse@helmholtz-muenchen.de
49-089-318-73946
Helmholtz Zentrum Mnchen - German Research Center for Environmental Health
Source:Eurekalert

Related biology news :

1. Protein important in diabetes may also play a key role in heart disease, other disorders
2. Immune system important in fight against stomach cancer
3. UD prof helps discover new chemical method important to drug design, agrichemicals
4. Research natural areas, important part of Forest Service mission, celebrated June 19
5. La Jolla Institute scientist leads team which discovers important new player in diabetes onset
6. New method for producing libraries of important carbohydrate molecules
7. Scientists make important step toward stopping plaque-like formations in Huntingtons disease
8. Tel Aviv University President Co-authors Important Paper Unraveling the Effect of Spatial Organization on Intracellular Chemistry
9. McGill plays important role in new global cancer-research network
10. Counting frogs: Why monitoring our amphibian populations is important
11. Community involvement important in fight against childhood obesity, according to UTHealth researchers
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/7/2017)... March 7, 2017   HireVue , the leading ... companies identify the best talent, faster, today announced the ... Officer (CSO) and Diana Kucer as Chief ... seasoned executive team poised to drive continued growth in ... a year of record bookings in 2017. ...
(Date:3/2/2017)... 2017 Summary This report provides ... KGaA and its partnering interests and activities since 2010. ... Description The Partnering Deals and Alliance since 2010 report ... one of the world,s leading life sciences companies. ... to ensure inclusion of the most up to date ...
(Date:3/1/2017)... -- Aware, Inc. (NASDAQ: AWRE), a leading supplier of biometrics ... has resigned, effective March 3, 2017, as co-Chief ... Treasurer of Aware citing a desire to retire.  Mr. ... the Board of Directors of Aware. ... co-President, General Counsel has been named Chief Executive Officer, ...
Breaking Biology News(10 mins):
(Date:3/22/2017)... Mass. , March 22, 2017 Good ... that it has eclipsed the 130 million covered lives ... Blue Shield of Texas . With ... the Company continues to enjoy strong payor acceptance based ... its clinical programs and genetic counseling, its industry-leading customer ...
(Date:3/22/2017)...   iSpecimen ®, the marketplace for ... Service (DPS), a full-service anatomic pathology reference lab ... States , has joined a program offered by ... (DHIN) to make human biospecimens and associated data available ... announced in 2015 as a collaboration between iSpecimen and ...
(Date:3/22/2017)... 22, 2017 MarketNewsUpdates.com News Commentary  ... The traditional ... being pressured as of late due to the rise of ... has a dramatic impact on patient,s quality of life as ... for identifying new forms of opioid formulations that prevent abuse. ...
(Date:3/22/2017)... , March 22, 2017   Boston Biomedical , ... therapeutics designed to target cancer stemness pathways, today announced ... Andrews as Chief Executive Officer, effective April 24, ... Chiang J. Li , M.D., FACP, who has led ... ago. Under his leadership, Boston Biomedical has grown from ...
Breaking Biology Technology: