VCP evolved very early in the development of animal life forms. The following chart (excerpted from a paper below) illustrates the many functions of VCP; thus, the difficulty in finding treatments for IBMPFD, but the importance of understanding VCP for a variety of other medical effects, e.g., other diseases, aging, some cancers.
The following are references that can be accessed by clicking on the associated link (i.e., the title):
IBM can mean either "Inclusion Body Myopathy" or "Inclusion Body Myocitis". Some of the aspects of these various diseases are listed in this chart.
Giles D. J. Watts
1, Jill Wymer1, Margaret J. Kovach2, Sarju G. Mehta1, Steven Mumm3, Daniel Darvish4, Alan Pestronk5, Michael P. Whyte3, Virginia E. Kimonis1.1
Division of Genetics, Children's Hospital Boston, Harvard Medical School, Boston, MA, USA 2 University of Tennessee at Chattanooga, Department of Biological and Environmental Sciences, 215 Holt Hall-Department 2653, Chattanooga, TN3
Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital; and Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, MO, USA (SM, MPW) 4 HIBM Research Group, 16661 Ventura Blvd., #311, Encino, CA, USA 5 Department of Neurology, Washington University School of Medicine, St. Louis, MO, USAPathological consequences of VCP mutations on human striated muscle
Christian U. Hu¨bbers,
1, Christoph S. Clemen,1,2, Kristina Kesper,3 Annett Bo¨ ddrich,7 Andreas Hofmann,9 Outi Ka¨ma¨ra¨inen,9 Karen Tolksdorf,3 Maria Stumpf,1 Julia Reichelt,1 Udo Roth,2 Sabine Krause,8 Giles Watts,10 Virginia Kimonis,10 Mike P. Wattjes,4 Jens Reimann,3 Dietmar R. Thal,5 Katharina Biermann,6 Bernd O. Evert,3 Hanns Lochmüller,8 Erich E. Wanker,7 Benedikt G. H. Schoser,8 Angelika A. Noegel1,2 and Rolf Schro¨der11Institute of Biochemistry I, 2Center for Molecular Medicine Cologne, Medical Faculty, University of Cologne, Cologne, 3Department of Neurology, 4Department of Radiology, 5Institute for Neuropathology, 6Institute of Pathology, University Hospital Bonn, Bonn, 7Department of Neuroproteomics, Max Delbrück Center for Molecular Medicine, Berlin, 8Friedrich-Baur-Institut and Department of Neurology, Ludwig Maximilians University of Munich, München, Germany, 9Institute of Structural and Molecular Biology, School of Biological Sciences, The University of Edinburgh, Edinburgh, UK and 10Division of Genetics, Children’s Hospital Boston, Harvard Medical School, Boston, MA, USA
Conrad C. Weihl
1,2,*, Seema Dalal2, Alan Pestronk1 and Phyllis I. Hanson21
Department of Neurology and 2Department of Cell Biology and Physiology, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USAp97 and close encounters of every kind: a brief review
I. Dreveny1, V.E. Pye1, F. Beuron, L.C. Briggs, R.L. Isaacson, S.J. Matthews, C. McKeown, X. Yuan, X. Zhang and P.S. Freemont2
Department of Biological Sciences, Centre for Structural Biology, Imperial College London, South Kensington, London SW7 2AZ, U.K.
Jake B. Guinto · Gillian P. Ritson · J. Paul Taylor ·Mark S. Forman
Conrad C. Weihl
1,2,*, Sara E. Miller1, Phyllis I. Hanson2 and Alan Pestronk11
Department of Neurology and 2Department of Cell Biology and Physiology, Washington University School of Medicine, 660 S. Euclid Avenue, Saint Louis, MO 63110, USAAPOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD)
Sarju G. Mehta, MD
1,5, Giles DJ. Watts1,5, Jennifer L. Adamson2, Mike Hutton2, Geanie Umberger, PhD3,Shuling Xiong,MD4, Sheena Ramdeen, BSc1, Mark A. Lovell, PhD4, Virginia E. Kimonis,MD1, and Charles D. Smith,MD3From the 1Children’s Hospital Clinical Genetics and Metabolism, Boston, Massachusetts; 2Mayo Clinic Jacksonville, Jacksonville, Florida; 3Department of Neurology and Sanders-Brown Center on Aging, University of Kentucky, Lexington, Kentucky; 4Department of Chemistry and Sanders-Brown Center on Aging, University of Kentucky, Lexington, Kentucky; 5 These authors contributed equally.
Virginia E. Kimonis, MD, MRCP, Division
of Genetics and Metabolism, Department of
Pediatrics, University of California Irvine Medical Center, 101 The City Drive
South,
ZC4482, Orange, CA 92686. E-mail: vkimonis@uci.edu
Submitted for publication May 3, 2006.
Accepted for publication October 31, 2006.
Disclosure: The authors reported no conflict of interests.
DOI: 10.1097/GIM.0b013e31802d830d
January 2007 Vol. 9 No. 1 a r t i c l e
Genetics IN Medicine 9
Clinical Studies in Familial VCP Myopathy, Paget Disease of Bone, and Frontotemporal Dementia
Virginia. E. Kimonis1, Sarju G. Mehta1, Erin C. Fulchiero1, Dana Thomasova1, Marzia Pasquali2, Kym Boycott3, Edward G. Neilan1, Alex Kartashov4, Mark S. Forman5, A. Keith W. Brownell3, Stuart Tucker6, Katerina Kimonis1, Steven Mumm7, Michael Whyte7, Charles D. Smith8 and Giles D. J. Watts1
1 Division of Genetics and Metabolism, Children's Hospital, Harvard Medical School, Boston, MA. 2 Department of Pathology, School of Medicine, University of Utah, Salt Lake City, UT. 3 University of Calgary, Alberta Children’s Hospital, Calgary, AB, Canada. 4 Clinical Research Program (CRP), Division of Biostatistics, Children’s Hospital, Boston, MA. 5 Division of Neuropathology, Department of Pathology and Laboratory Medicine, University of Pennsylvania, PA 6 Eastover Internal Medicine, Carolinas HealthCare System, Charlotte, NC. 7 Division of Bone and Mineral Diseases, Washington University School of Medicine and Barnes-Jewish Hospital Research Institute, St. Louis, MO. 8 Department of Neurology and Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY. Corresponding Author: Virginia E. Kimonis, MD, MRCP University of California, Irvine Division of Genetics and Metabolism Department of Pediatrics 101 The City Drive, ZOT 4482 Orange, CA 92868 Tel: (714) 456-2942 Fax :(714) 456 5610 Email:vkimonis@uci.edu
Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia
Virginia Kimonis, MD, Giles Watts, PhD
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Contact Monica Smersh with questions.
The following papers are for general information about amino acids:
DNA codons for Amino Acids Table
The following papers are specific to me:
Biopsy Report This is the results of a needle biopsy (relatively painless) performed on David Sweetman at the University of Rochester in 2002 in one of the attempts to determine the nature of the disease (before the discovery of the VCP mutations noted above).
Failure Analysis of IBMPFD This is a "non-medical" paper written by David Sweetman in an attempt to put medical concepts into a format better understood by one whose background is in manufacturing or assembly. All comments are welcome, both to correct any errors as well as suggestions for improvement or addition of other information.