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 the mitochondrial dysfunction in the VCP deficient cells", added Dr Bartolome .

Dr Brian Dickie, the Motor Neuron Disease Association's Director of Research Development says: "Neurons - and motor neurons in particular - are incredibly energy hungry cells. These new findings from the team at UCL show that there is a significant interruption of energy supply in this hereditary form of MND, which has strong implications for understanding the degenerative process underpinning all forms of the disease."


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

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:6/23/2016)... SPRING, Md. , June 23, 2016 A ... collected from the crime scene to track the criminal down. ... and the U.S. Food and Drug Administration (FDA) uses DNA ... Sound far-fetched? It,s not. The ... genome sequencing to support investigations of foodborne illnesses. Put as ...
(Date:6/23/2016)... , June 23, 2016  The Prostate Cancer Foundation (PCF) ... precise treatments and faster cures for prostate cancer. Members of the Class of ... 15 countries. Read More About the Class of 2016 ... ... ...
(Date:6/23/2016)... ... June 23, 2016 , ... ... launch of the Supplyframe Design Lab . Located in Pasadena, Calif., the ... future of how hardware projects are designed, built and brought to market. , ...
(Date:6/23/2016)... 2016 Apellis Pharmaceuticals, Inc. today announced ... of its complement C3 inhibitor, APL-2. The trials ... dose studies designed to assess the safety, tolerability, ... in healthy adult volunteers. Forty subjects ... single dose (ranging from 45 to 1,440mg) or ...
Breaking Biology Technology:
(Date:6/1/2016)... YORK , June 1, 2016 ... Technology in Election Administration and Criminal Identification to Boost ... to a recently released TechSci Research report, " Global ... By Region, Competition Forecast and Opportunities, 2011 - 2021", ... 24.8 billion by 2021, on account of growing security ...
(Date:5/16/2016)... NEW YORK , May 16, 2016   ... authentication solutions, today announced the opening of an IoT ... to strengthen and expand the development of embedded ... provides an unprecedented level of convenience and security with ... to authenticate one,s identity aside from DNA. EyeLock,s platform ...
(Date:5/3/2016)... 2016  Neurotechnology, a provider of high-precision biometric ... Biometric Identification System (ABIS) , a complete system ... ABIS can process multiple complex biometric transactions with ... fingerprint, face or iris biometrics. It leverages the ... MegaMatcher Accelerator , which have been used ...
Breaking Biology News(10 mins):