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
'/>"/>

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

Page: 1 2

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:7/8/2015)... , July 8, 2015 The ... as this summer,s must have products such as wearables, smart ... as popularity for biometrics based devices continues to rapidly grow.  ... Inc. (NASDAQ: NXTD ), Google Inc. (NASDAQ: GOOG ... FIT ), GoPro, Inc. (NASDAQ: GPRO ) and ...
(Date:7/7/2015)... 2015 NXT-ID, Inc. (NASDAQ: NXTD ) ("NXT-ID" or ... commerce market announces a revised version of one of its first ... air on CNBC in New York , ... San Francisco metro areas.    ... ability to replace all the cards in your wallet and keep ...
(Date:7/2/2015)... Fingerprint Cards has received an order for its ... distributor World Peace Industrial Group (WPI), part of WPG Holdings. ... . Deliveries are planned to take place during Q3 ... manufacturers in Asia . The order value ... of approximately 2,200 MSEK for 2015. Jörgen Lantto, ...
Breaking Biology News(10 mins):Consumers Flock to This Summer's Must Have Tech Gadgets as Latest Digital Wallets, Smart Technology & Wearable Products Continue to Grow in Popularity & Functionality 2Consumers Flock to This Summer's Must Have Tech Gadgets as Latest Digital Wallets, Smart Technology & Wearable Products Continue to Grow in Popularity & Functionality 3Consumers Flock to This Summer's Must Have Tech Gadgets as Latest Digital Wallets, Smart Technology & Wearable Products Continue to Grow in Popularity & Functionality 4Consumers Flock to This Summer's Must Have Tech Gadgets as Latest Digital Wallets, Smart Technology & Wearable Products Continue to Grow in Popularity & Functionality 5Consumers Flock to This Summer's Must Have Tech Gadgets as Latest Digital Wallets, Smart Technology & Wearable Products Continue to Grow in Popularity & Functionality 6Wocket Smart Wallet Commercials Airing on CNBC to Showcase This Summer's Must- Have Tech Product 2Wocket Smart Wallet Commercials Airing on CNBC to Showcase This Summer's Must- Have Tech Product 3FPC Receives Order for Touch Fingerprint Sensors of 268 MSEK 2
... levels of carbon dioxide in the atmosphere are a ... The lack of atmospheric carbon dioxide (CO 2 ) ... their aquatic relatives, microalgae. For plants and microalgae, ... their photosynthesis process that, along with sunlight, manufactures sugars ...
... University of Wisconsin, USA, report in the journal ... human embryonic stem cells of a type of cell ... new possibilities for both basic and clinical research. ... are responsible for making myelin in the central nervous ...
... America,s biological field stations have long been home to ... them important places for serendipitous discoveries in the biological ... the April issue of the journal BioScience , ... Term Ecological Research (LTER) Network and other groups state ...
Cached Biology News:ISU researcher identifies protein that concentrates carbon dioxide in algae 2Human ES cells progress slowly in myelin's direction 2Field stations foster serendipitous discoveries in environmental, biological sciences 2Field stations foster serendipitous discoveries in environmental, biological sciences 3
(Date:8/3/2015)... , Aug. 3, 2015   Intrexon Corporation ... first half and second quarter 2015 financial results after ... 2015.  The Company will host a conference call at ... a general business update. The conference call ... 1-412-902-4262 (International), and asking to join the "Intrexon Corporation ...
(Date:7/31/2015)... VEGAS , July 31, 2015 ... seek resources that help them drive positive health ... a vital source of patient care in their ... annual tradeshow and conference, AmerisourceBergen announced a ... its Pharmacy Services Administration Organization and help independent ...
(Date:7/30/2015)... ... July 31, 2015 , ... Ralco is honored to announce that ... County Fair to be held August 5-9 in Marshall. The Ralco Enrichment Center is ... from and how agriculture impacts their daily lives. This unique exhibit also features a ...
(Date:7/30/2015)... ... July 30, 2015 , ... The 2015 Market Research Report ... the current state of the global Propanol market with a focus on the Chinese ... Dow, Carboclor, Mitsui Chemicals, Oxea, ISU Chemical, Sanofi, Royal Dutch Shell, LG Chem and ...
Breaking Biology Technology:Intrexon to Announce First Half and Second Quarter 2015 Financial Results and Host Conference Call on August 10th 2AmerisourceBergen Unveils Suite of Enhanced Capabilities for Independent Pharmacies at ThoughtSpot 2015 2AmerisourceBergen Unveils Suite of Enhanced Capabilities for Independent Pharmacies at ThoughtSpot 2015 3Ralco Announces Primary Sponsorship of Ralco Enrichment Center at Lyon County Fair 2Global Propanol Market Technical Data and Manufacturing Analysis 2020 2Global Propanol Market Technical Data and Manufacturing Analysis 2020 3
... 11, 2011 /PRNewswire-Asia/ -- Chinmax Medical Systems Inc., a ... regarding the progress of its lawsuit against Inverness Medical ... According to the Complaint, Inverness Medical Beijing ... the same to Chinmax customers during the period when ...
... SAN DIEGO, April 11, 2011 MabVax Therapeutics, Inc., ... the development of vaccine and antibody based therapies to ... announces that it has received the Phase 2 portion ... the National Cancer Institute (NCI) under the agency,s Streamlined ...
... VIGILAIR Systems, an industry leader in Ultraviolet Germicidal ... and first of its kind hospital study that demonstrated ... with the application of VIGILAIR® air cleaning technology in ... published article , Effect of enhanced ultraviolet germicidal irradiation ...
Cached Biology Technology:Beijing Chaoyang District Court Grants Investigation Letters Against Inverness Medical Beijing, A Subsidiary of Alere Inc. 2MabVax Therapeutics Receives $1.8 Million in a Phase 2 Small Business Innovation Research Program Award From the National Cancer Institute 2MabVax Therapeutics Receives $1.8 Million in a Phase 2 Small Business Innovation Research Program Award From the National Cancer Institute 3Newly Published Study Shows Dramatic Reduction in Hospital Acquired Infections 2
Rat Normal Multiple Tissue Array 1 slide...
EPH electrode, anode, 1. Category: Electrophoresis Systems & Standards & Reagents, IEF & SDS-PAGE & 2-D Electrophoresis, Multiphor II Kits & Components and Accessories....
GENOMIPHI HY KIT 1000 RXN, 1 EA. Category: Genomics DNA Amplification....
... SlowFade Light Antifade Kit is an aqueous-based ... with fluorescent dyes. This formulation of antifade ... and Cascade Blue fluorophores that is often ... kit is available with the blue-fluorescent nucleic ...
Biology Products: