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:10/20/2014)... Convey Computer , the leader in ... State University won first place in the 2014 ... the team’s solution achieved the highest overall performance in ... place finisher. , Experts from all segments of the ... challenge, using a variety of design tools, hardware and ...
(Date:10/20/2014)... Inc. (TSXV: BRM) ("Biorem" or "the Company") today announced four new ... and provides a good start to Q4.  The orders are for ... and one in the Middle East . ... Peter Bruijns , President & CEO. "Total bidding activity and ... have been for any complete year since the company has tracked ...
(Date:10/20/2014)... Oct. 20, 2014  GenVec, Inc. (NASDAQ: GNVC ... , Ph.D., from its board of directors effective on October ... 2003, and served as its chairman from June 2006 to ... Nominating and Corporate Governance and Audit Committees of the board.  ... a decade of dedicated service to GenVec, and its stockholders," ...
(Date:10/20/2014)... 2014 OncLive® is ... Center at Thomas Jefferson University has joined its ... Strategic Alliance Partnership program, the Sidney Kimmel Cancer ... raise awareness of the Center’s cutting-edge research programs, ... Clinicians and other health care professionals from the ...
Breaking Biology Technology:Team from Iowa State Wins 2014 MemoCODE Design Contest Using Convey HC-2ex 2Team from Iowa State Wins 2014 MemoCODE Design Contest Using Convey HC-2ex 3Zola P. Horovitz To Retire From GenVec Board 2Sidney Kimmel Cancer Center at Thomas Jefferson University Partners With OncLive 2Sidney Kimmel Cancer Center at Thomas Jefferson University Partners With OncLive 3
... Yves Lionel Assant is,the new Chairman of Gerresheimer,s ... was already a member of the Supervisory Board. ... position for personal reasons. He,remains a member of ... & life science supply and services,company with market ...
... Stephen Simes, chief executive,officer of BioSante Pharmaceuticals, ... be featured in an exclusive interview with, http://www.wallst.net ... EDT. The interview,will be posted on http://www.wallst.net ... The interview will cover topics including BioSante,s ...
... Calif., Sept. 24 Today, the rights ... utilize PARI,s,eFlow electronic nebulizer for aerosol delivery ... of Corus Pharma in,August 2006, this is ... eFlow is featured prominently in the development ...
Cached Biology Technology:WallSt.net Announces Upcoming Interview with CEO of BioSante Pharmaceuticals 2Pediatric Asthma Programs Featuring PARI Pharma's eFlow Acquired by AstraZeneca 2
(Date:10/14/2014)... Mount Sinai-led research team has discovered a new kind of ... a cell that lines liver blood vessels, according to a ... . The existence of such a cell type contradicts current ... embryo, and may hold clues to origins of, and future ... from a single cell into a complex being made up ...
(Date:10/14/2014)... CA – October 14, 2014 – Scientists from The ... from the National Institutes of Health (NIH) to lead ... virus-induced hemorrhagic fever disease in Africa. The study aims ... why some patients die, while others survive the inflection. ... understand the basic mechanism of how Lassa fever virus ...
(Date:10/14/2014)... international team of researchers, led by the Chinese Academy ... Nature Genetics a brief genomic history of ... the tomato plant. , The C.M. Rick Tomato Genetics ... in this study by providing seed of both cultivated ... which builds on the first tomato genome sequence completed ...
Breaking Biology News(10 mins):Stem cell discovery challenges dogma on how fetus develops; holds insights for liver cancer and reg 2Stem cell discovery challenges dogma on how fetus develops; holds insights for liver cancer and reg 3Scripps Research Institute team receives $6.6 million to investigate deadly Lassa virus 2
... Department of Energy,s Savannah River National Laboratory (SRNL) ... University to decrease mold growth in flooded homes ... by the Department of Homeland Security (DHS) through ... University asked SRNL and Tuskegee University to join ...
... JOLLA, Calif., July 14, 2010 Put simply, a tumor ... the cell cycle the cell,s process of duplicating itself ... of proteins tells other proteins what to do and when ... regulation fail, cell growth can get out of hand. A ...
... -- The 52nd meeting of the American Association ... - 22, 2010 in Philadelphia, PA. AAPM ... broadly-based scientific and professional discipline encompassing physics principles ... includes medical physicists who specialize in research that ...
Cached Biology News:SRNL works to decrease hazards from mold in water damaged homes 2New role for the JNK protein 2Nanotech medicine, tumor tracking, new technologies and more 2Nanotech medicine, tumor tracking, new technologies and more 3Nanotech medicine, tumor tracking, new technologies and more 4Nanotech medicine, tumor tracking, new technologies and more 5Nanotech medicine, tumor tracking, new technologies and more 6Nanotech medicine, tumor tracking, new technologies and more 7Nanotech medicine, tumor tracking, new technologies and more 8Nanotech medicine, tumor tracking, new technologies and more 9Nanotech medicine, tumor tracking, new technologies and more 10Nanotech medicine, tumor tracking, new technologies and more 11Nanotech medicine, tumor tracking, new technologies and more 12Nanotech medicine, tumor tracking, new technologies and more 13Nanotech medicine, tumor tracking, new technologies and more 14Nanotech medicine, tumor tracking, new technologies and more 15Nanotech medicine, tumor tracking, new technologies and more 16Nanotech medicine, tumor tracking, new technologies and more 17