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:5/20/2016)... -- VoiceIt is excited to announce its new marketing ... working together, VoiceIt and VoicePass will offer an ... slightly different approaches to voice biometrics, collaboration between ... Both companies ... "This marketing and technology partnership allows VoiceIt ...
(Date:5/3/2016)... , May 3, 2016  Neurotechnology, a ... the MegaMatcher Automated Biometric Identification System (ABIS) ... large-scale multi-biometric projects. MegaMatcher ABIS can process multiple ... using any combination of fingerprint, face or iris ... MegaMatcher SDK and MegaMatcher Accelerator , ...
(Date:4/26/2016)... -- Research and Markets has announced the ...  report to their offering.  , ,     (Logo: ... forecast the global multimodal biometrics market to grow ... 2016-2020.  Multimodal biometrics is being implemented ... healthcare, BFSI, transportation, automotive, and government for controlling ...
Breaking Biology News(10 mins):
(Date:6/24/2016)... , June 24, 2016 Epic Sciences ... detects cancers susceptible to PARP inhibitors by targeting ... cells (CTCs). The new test has already been ... in multiple cancer types. Over 230 ... damage response pathways, including PARP, ATM, ATR, DNA-PK ...
(Date:6/23/2016)... , ... June 23, 2016 , ... ... release of its second eBook, “Clinical Trials Patient Recruitment and Retention Tips.” Partnering ... retention in this eBook by providing practical tips, tools, and strategies for clinical ...
(Date:6/23/2016)... June 23, 2016 /PRNewswire/ - FACIT has announced ... biotechnology company, Propellon Therapeutics Inc. ("Propellon" ... commercialization of a portfolio of first-in-class WDR5 inhibitors ... such as WDR5 represent an exciting class of ... precision medicine for cancer patients. Substantial advances have ...
(Date:6/23/2016)... Lawrence, MA (PRWEB) , ... June 23, 2016 ... ... the Peel Plate® YM (Yeast and Mold) microbial test has received AOAC Research ... test platform of microbial tests introduced last year,” stated Bob Salter, Vice President ...
Breaking Biology Technology: