Navigation Links
Mutation may cause inherited neuropathy
Date:12/25/2007

harcot-Marie-Tooth disease is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. It is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs. In CMT, both the sensory nerves that carry signals from receptors in the extremities to the brain and spinal cord, as well as motor nerves that relay signals from the brain and spinal cord to the limbs and internal organs are affected.

Hereditary sensory neuropathy affects predominantly sensory nerves. Symptoms included sensation loss, decreased or absent reflexes, foot deformities and various anatomic features.

Dynein appears to be a likely suspect, the authors report. Although it is found throughout the body, Dynein plays an important role in the transport of cargo within axons, the elongated extension of nerve cells that transmit signals from one neuron to another. Dynein is crucial for survival, because mice that lack dynein or have mutations in both Dync1h copies die before birth.

Although dynein is important for the whole body, defects are found only in sensory neurons, and predominantly in hind limbs.

The key question is why" said Popko. This mutation may affect transport proteins in all neurons, but perhaps the region that is mutated is more important for the proteins that it transports in sensory neurons, whereas other regions could play a role in motor neurons. Also, mutations in different regions of this protein seem to have different effects. That may be due to differences in the cargo-binding domains.

Affected neurons in mice and in patients with sensory neuropathies have very long axons. Such neurons that transmit signals over huge distances depend on dynein, the "cargo-transporter" to carry molecules from the tip of the axon to the neurons cell bodies. If the cargo-transporter is somehow disturbed, Popko said, like in the case of mutations in Dync1h gene
'/>"/>

Contact: Scot Roskelley
scot.roskelley@uchospitals.edu
773-702-6241
University of Chicago Medical Center
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Presence of gene mutation helps guide thyroid cancer treatment
2. Mutation of the COX2 gene can double or treble a womans risk of ovarian cancer
3. New study reveals for first time how BRCA1 mutations cause breast cancer
4. Men unaware of their cancer risk when female relatives test positive for BRCA mutation
5. Varying prevalence among ethnic groups of gene mutation that increases risk of breast cancer
6. deCODE discovers cause of major subtype of glaucoma
7. Study begins to reveal clues to the cause and progression of sepsis
8. Bleeding, not inflammation, is major cause of early lung infection death
9. Gamma globulin effective in treating eye infections caused by adenoviruses
10. Hidden interactions between predators and prey: evolution causes cryptic dynamics in ecology
11. Spaceflight shown to alter ability of bacteria to cause disease
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/11/2014)... Dec. 10, 2014  That blood pressure plays a role in ... – the medical term for high blood pressure – was ... the inflatable cuff that,s used in measuring blood pressure was ... nothing new about hypertension, its triggers and its effects. In ...
(Date:12/10/2014)... , Dec. 8, 2014 You,ve been here before: you desperately ... your password, site key or the answer to your secret question. ... Today, Hoyos Labs , a digital infrastructure security ... end to the frustration that comes with usernames, passwords and PINs ...
(Date:12/10/2014)... WINSTON-SALEM, N.C. , Dec. 9, 2014  Wake Forest Baptist ... building for its School of Medicine. Funding for this $50 ... that will be publicly launched next summer. ... 60 series R.J. Reynolds Tobacco Company complex, adjacent to 525@vine ...
Breaking Biology News(10 mins):Research points to need for new approaches to treatment of high blood pressure 2Research points to need for new approaches to treatment of high blood pressure 3Research points to need for new approaches to treatment of high blood pressure 4The Password is Finally Dead: Launch of 1U Mobile App Eliminates Need for All Usernames and Passwords 2The Password is Finally Dead: Launch of 1U Mobile App Eliminates Need for All Usernames and Passwords 3Wake Forest Baptist to Build New Medical Education Facility In Wake Forest Innovation Quarter 2Wake Forest Baptist to Build New Medical Education Facility In Wake Forest Innovation Quarter 3Wake Forest Baptist to Build New Medical Education Facility In Wake Forest Innovation Quarter 4
... flu viruses that infect birds and humans, a discovery that ... and aid in the development of vaccines against a deadly ... to infect humans depends on whether it can bind to ... respiratory cells. Now that we know what to look ...
... Diego has become the first campus on the West Coast ... voluntary, legally binding trading system to reduce emissions of greenhouse ... the nation to join the climate exchange. Joining the ... conserve energy and reduce greenhouse gases (GHG). Trading in GHG ...
... Ohio State University will battle for the BCS National ... but if the game was held in the Louisiana ... Louisianas wetlands are being lost at the rate of ... against this rapid destruction, the two universities joined forces ...
Cached Biology News:MIT finds key to avian flu in humans 2MIT finds key to avian flu in humans 3UC San Diego begins trading greenhouse gas credits on Chicago Climate Exchange 2LSU and Ohio State battle on football field, collaborate in research field 2
(Date:1/22/2015)... , Jan. 22. 2015  Varian Medical Systems (NYSE: ... been honored for its commitment to sustainability with inclusion on ... is the highest ranked healthcare equipment company among the Corporate ... the World Economic Forum at Davos, Switzerland ...
(Date:1/22/2015)... N.J. , Jan. 22, 2015  Derma Sciences, ... regeneration company focused on advanced wound care, announces ... placental tissues, have been added to the Premier, ... increases the opportunity for the AMNIOEXCEL® and AMNIOMATRIX® ...
(Date:12/24/2014)... SPRING, Md. , Dec. 24, 2014  United Therapeutics ... Medtronic, Inc. (NYSE: MDT ) has submitted ... Drug Administration (FDA) for the use of Medtronic,s SynchroMed ... newly developed catheter) for use with United Therapeutics, Remodulin ...
(Date:12/24/2014)... , Dec. 24, 2014  Vermillion, Inc. (Nasdaq:   ... disease, announced today that the Company closed its ... Investment Management, Jack W. Schuler , Birchview ... were $10.5 million, before offering expenses.  The proceeds ...
Breaking Biology Technology:Varian Honored Among World's 100 Most Sustainable Corporations 2Derma Sciences Expands Access of its AMNIOTIC TISSUE Product Line with New Premier, Inc. Agreement 2Derma Sciences Expands Access of its AMNIOTIC TISSUE Product Line with New Premier, Inc. Agreement 3Derma Sciences Expands Access of its AMNIOTIC TISSUE Product Line with New Premier, Inc. Agreement 4Derma Sciences Expands Access of its AMNIOTIC TISSUE Product Line with New Premier, Inc. Agreement 5United Therapeutics Announces Submission Of Pre-Market Approval Application For Implantable Drug Infusion System To Deliver Remodulin 2United Therapeutics Announces Submission Of Pre-Market Approval Application For Implantable Drug Infusion System To Deliver Remodulin 3United Therapeutics Announces Submission Of Pre-Market Approval Application For Implantable Drug Infusion System To Deliver Remodulin 4Vermillion Announces Closing of Equity Financing 2Vermillion Announces Closing of Equity Financing 3
... HGS product sales achieved with delivery of ABthrax(TM) to U.S. ... cash balance of $397 million as of March 31, up ... for second Phase 3 trial of Albuferon (R) ... fall 2009 - - Initiation of Syncria (R) ...
... RICHMOND, Calif., April 29 Sangamo BioSciences, Inc. ... success of its zinc finger DNA-binding protein (ZFP) ... Nature by licensing partner Dow AgroSciences ... technology for the efficient generation of maize plants ...
... , ... Austin, Texas (PRWEB) April 29, 2009 -- ... storing and distributing content, today announced the release of CAStor 3.0, ... virtual CAStor nodes in a single, physical server chassis. CAStor Cluster ...
Cached Biology Technology:Human Genome Sciences Announces First Quarter 2009 Financial Results and Key Developments 2Human Genome Sciences Announces First Quarter 2009 Financial Results and Key Developments 3Human Genome Sciences Announces First Quarter 2009 Financial Results and Key Developments 4Human Genome Sciences Announces First Quarter 2009 Financial Results and Key Developments 5Human Genome Sciences Announces First Quarter 2009 Financial Results and Key Developments 6Human Genome Sciences Announces First Quarter 2009 Financial Results and Key Developments 7Human Genome Sciences Announces First Quarter 2009 Financial Results and Key Developments 8Human Genome Sciences Announces First Quarter 2009 Financial Results and Key Developments 9Human Genome Sciences Announces First Quarter 2009 Financial Results and Key Developments 10Sangamo BioSciences Announces Publication in Nature of the Use of Zinc Finger Nucleases to Accelerate Precision Trait Stacking in Commercial Crop Species 2Sangamo BioSciences Announces Publication in Nature of the Use of Zinc Finger Nucleases to Accelerate Precision Trait Stacking in Commercial Crop Species 3Sangamo BioSciences Announces Publication in Nature of the Use of Zinc Finger Nucleases to Accelerate Precision Trait Stacking in Commercial Crop Species 4Caringo Delivers Storage Cluster in a Box with CAStor 3.0 2
For the quantitative determination of canine Interferon gamma,(IFN-γ) concentrations in cell culture supernates, serum and,plasma....
Request Info...
Homo sapiens olfactomedin 1, transcript variant 3...
Component of GELase™ Agarose Gel-Digesting Preparation. 1 ml of 50X Buffer is sufficient for replacing the buffer in at least 5 g of gel....
Biology Products: