Navigation Links
Mutations in VCP gene implicated in a number of neurodegenerative diseases
Date:3/14/2013

New research, published in Neuron, gives insight into how single mutations in the VCP gene cause a range of neurological conditions including a form of dementia called Inclusion Body Myopathy, Paget's Disease of the Bone and Frontotemporal Dementia (IBMPFD), and the motor neuron disease Amyotrophic Lateral Sclerosis (ALS).

Single mutations in one gene rarely cause such different diseases. This study shows that these mutations disrupt energy production in cells shedding new light on the role of VCP in these multiple disorders.

In healthy cells VCP helps remove damaged mitochondria, the energy-producing engines of cells. The mutant protein can't do this and as a result, the dysfunctional mitochondria build up.

The new study led by Dr Fernando Bartolome, Dr Helene Plun-Favreau and Dr Andrey Abramov of the UCL Institute of Neurology, found that mitochondria are damaged in cells from patients with mutant VCP. Mitochondria generate a cell's energy, and the study found these damaged mitochondria are less efficient, burning more nutrients but producing less energy. This reduction in available energy makes cells more vulnerable, which could explain why mutations in the VCP gene lead to neurological disorders.

Lead author Dr Fernando Bartolome said "We have found that VCP mutations are associated with mitochondrial dysfunction. VCP had previously been shown to be important in the removal of damaged mitochondria and proteins, accumulation of which is potentially very toxic to cells. A single mutation in the VCP gene could cause multiple neurological diseases because a different type of protein is accumulating in each disorder".

In the study, the researchers used live imaging techniques to examine the functioning of mitochondria in patient cells carrying three independent VCP mutations, and in nerve cells in which the amount of VCP has been reduced.

"The next step will be to find small molecules able to correct
'/>"/>

Contact: Rosie Waldron
r.waldron@ucl.ac.uk
020-767-99041
University College London
Source:Eurekalert

Page: 1 2

Related biology technology :

1. Whole Genome Sequencing of Triple Negative Breast Cancer Reveals Previously Unreported Mutations
2. Autism mutations, scattered across many genes, merge into common network of interactions
3. TrovaGene, Inc. Obtains Exclusive License to Novel Mutations Associated with Prognosis and Chemotherapy Response in Leukemia
4. Ingenuity Systems Announces Curation of All Human Disease Implicated Genetic Variation
5. Victims of Pesticide Misuse to Kill Bed Bugs Rise in Numbers; Spray For Bed Bug Says It's Best to Use Pesticide-Exempt Bed Bug Bully Instead
6. BioSpain 2012 is Larger in Terms of Internationalisation and the Number of Exhibitors, Meetings and Visitors
7. Profil Institute Reports Record Growth in Number of Clinical Trials in the Pipeline
8. Number of Ion Community Users Triples, Spurred by Open Access to DNA Sequencing Protocols and Analysis Software
9. Neuralstem Receives Notice Of Issuance For Patent Covering Human Neural Cell Transplantation For Neurodegenerative Conditions
10. New MRI method fingerprints tissues and diseases
11. Lupus Research Institute Requests Strengthened NIH Funding for Biomedical Research in Debilitating Diseases like Lupus
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/19/2014)... MA (PRWEB) December 18, 2014 Reports ... in the United States suffer from one or more ... asthma, or cancer. Medication can address some of these ... daily activities that many sufferers face. While implanted nerve ... and stimulate the whole nerve, which can induce side ...
(Date:12/19/2014)... With only 2 weeks left of ... Sartorius Biohit products . The product specials include Buy ... Pipette Trade-in Program, and free pipette tips. , Sartorius ... the world. They are ideal for lab technicians performing ... ,     Full volume range of 0.1 uL to ...
(Date:12/19/2014)... , Dec. 18, 2014 Relmada Therapeutics, Inc. ... the treatment of chronic pain, announced the results of ... "This was a transformational year in Relmada,s history ... for our company," said Sergio Traversa , chief ... have executed on key financial, human resource and clinical ...
(Date:12/17/2014)... 2014 Achim Noack has been named ... Group. In this position, Noack will assist Jerry Stoller, ... develop marketing strategy and supervise global marketing management and ... has tremendous knowledge and experience in the crop protection ... experience and innovative thinking will be a great asset ...
Breaking Biology Technology:Draper Wins GSK Funding for Smaller, Smarter Implantable Devices 2Major Pipette Distributor Pipette.com Announces Sartorius Year End Specials 2Relmada Therapeutics Announces Results of Annual Shareholders Meeting 2Achim Noack Joins Stoller Group as Global Vice President of Marketing and Administration 2
... , , , , , , , ... 4308 915.021 11/1999 , , , , , , ... Cell line , NIH 3T3, mouse embryo, ... Plasmid pEGFP-N1 (in bidistilled H 2 O), , , ...
... Multiporator / Electroporator 2510 , , , , , , , ... Protocol No. 4308 915.522 03/2002 , , ... , , Microorganism , ... Cell type , Bacteria, gram positive, , ...
... Electroporator 2510 , , , , , , , , ... Protocol No. 4308 915.523 03/2002 , , , , ... , Microorganism , Mycobacterium avium, ... Bacteria, gram positive, , , ...
Cached Biology Technology:NIH 3T3 2Mycobacterium smegmatis 2Mycobacterium avium 2
(Date:12/17/2014)... Va. , Dec. 15, 2014 ... to make it easier to detect and prevent ... Today the agency started performing an ... capability will validate the authenticity of purchased microcircuits ... The new quality control measures will be conducted ...
(Date:12/17/2014)... -- Automation is fundamentally transforming the travel experience and ... borders. Over the past decade, ePassports, biometric readers, ... to self process through border control via eGates ... increasing number of airports, seaports, and land borders ... Maxine Most , Principal at Acuity Market ...
(Date:12/11/2014)... , Dec. 10, 2014  That blood pressure plays ... a while. Hypertension – the medical term for high blood ... early 1800s, and the inflatable cuff that,s used in measuring ... however, mean there,s nothing new about hypertension, its triggers and ... beliefs about the condition and the best ways to treat ...
Breaking Biology News(10 mins):Defense Logistics Agency Launches DNA Marking Capability to Strengthen Microcircuit Supply Chain 2Defense Logistics Agency Launches DNA Marking Capability to Strengthen Microcircuit Supply Chain 3Automated Border Control (ABC) Transforms the Global Travel Experience With More Than 2500 ABC eGates and APC Kiosks Deployed In Airports, Seaports, and Land Borders Worldwide 2Research 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 4
... fish hatched at Michigan State University has a new look. A ... a number of improvements on the fish, including the ability to ... The fish now has the ability to glide through the water ... that can aid in the cleaning of our lakes and rivers. ...
... NEW YORK January 16, 2013 EcoHealth Alliance, a ... issues, released new research on Ebola virus in fruit bats ... a monthly publication by the Centers for Disease Control and ... in 4% of the 276 bats scientists screened in Bangladesh. ...
... start at the launch pad or even in orbit. They ... instruments that promise to expand our view and understanding of ... lay the groundwork for the Aerosol-Cloud-Ecosystem (ACE) mission, a satellite ... to learn about clouds and aerosols," said ACE science lead ...
Cached Biology News:New robotic fish glides indefinitely 2Recent study suggests bats are reservoir for ebola virus in Bangladesh 2PODEX experiment to reshape future of atmospheric science 2PODEX experiment to reshape future of atmospheric science 3PODEX experiment to reshape future of atmospheric science 4PODEX experiment to reshape future of atmospheric science 5
... system for SFC and SFE applications based ... instrumentation. JASCO has recently added the following ... system: ,- The PU-1580-CO2 delivery pump for ... carbon dioxide as the mobile phase. ,- ...
... Decorin ( Abpromise for all ... Synthetic peptide: IGPEVPDDRDFEPS conjugated to ... of Human Decorin (fragment 36-49 of ... Entrez GeneID: ...
...
... Sartolab P20 and Sartolab P20 plus,for Reliable ... units which, attached to a,membrane pump or ... to 5 liter of media,and aqueous solutions. ... area,(20 cm2) and an automatic de-aeration,ensures high ...
Biology Products: