Neurobiology of Disease (Apr 2025)
2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy
- A. Peck,
- A. Dadi,
- Z. Yavarow,
- L.N. Alfano,
- D. Anderson,
- M.R. Arkin,
- T.F. Chou,
- E.S. D'Ambrosio,
- J. Diaz-Manera,
- J.P. Dudley,
- A.G. Elder,
- N. Ghoshal,
- C.E. Hart,
- M.M. Hart,
- D.M. Huryn,
- A.E. Johnson,
- K.B. Jones,
- V. Kimonis,
- E. Kiskinis,
- E.B. Lee,
- T.E. Lloyd,
- M. Mapstone,
- A. Martin,
- H. Meyer,
- T. Mozaffar,
- C.U. Onyike,
- G. Pfeffer,
- A. Pindon,
- M. Raman,
- I. Richard,
- D.C. Rubinsztein,
- M. Schiava,
- A.K. Schütz,
- P.S. Shen,
- D.R. Southworth,
- A.M. Staffaroni,
- M. Taralio-Gravovac,
- C.C. Weihl,
- Q. Yao,
- Y. Ye,
- N. Peck
Affiliations
- A. Peck
- Cure VCP Disease, Warner Robins, GA, USA
- A. Dadi
- Cure VCP Disease, Warner Robins, GA, USA
- Z. Yavarow
- Cure VCP Disease, Warner Robins, GA, USA
- L.N. Alfano
- The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA
- D. Anderson
- Eikon Therapeutics, Hayward, CA, USA
- M.R. Arkin
- Department of Pharmaceutical Chemistry, University of California, San Francisco, San Francisco, CA, USA
- T.F. Chou
- Department of Biology, Caltech, Pasadena, CA, USA
- E.S. D'Ambrosio
- Nationwide Children's Hospital, Columbus, OH, USA; Department of Genetic and Cellular Medicine and Department of Neurology, UMass Chan Medical School, Worcester, MA, USA
- J. Diaz-Manera
- The John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust, Center for Life, Central Parkway, Newcastle, Upon Tyne, United Kingdom
- J.P. Dudley
- LaMontagne Center for Infectious Disease, University of Texas, Austin, TX, USA
- A.G. Elder
- Cure VCP Disease, Warner Robins, GA, USA
- N. Ghoshal
- Departments of Neurology and Psychiatry, Washington University School of Medicine, St. Louis, MO, USA
- C.E. Hart
- Creyon Bio, San Diego, CA, USA; Lilly, Indianapolis, IN, USA
- M.M. Hart
- Cure VCP Disease, Warner Robins, GA, USA
- D.M. Huryn
- Department of Chemistry University of Pennsylvania, Philadelphia, PA, USA
- A.E. Johnson
- Department of Biological Sciences, Louisiana State University, Baton Rouge, LA, USA
- K.B. Jones
- Department of Orthopaedics, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA
- V. Kimonis
- Department of Pediatrics, University of California, Irvine, CA, USA; Department of Neurology, University of California, Irvine, CA, USA
- E. Kiskinis
- The Ken & Ruth Davee Department of Neurology, Department of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
- E.B. Lee
- Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
- T.E. Lloyd
- Department of Neurology Baylor College of Medicine, Houston, TX, USA
- M. Mapstone
- Department of Neurology, University of California, Irvine, CA, USA
- A. Martin
- Howard Hughes Medical Institute, University of California, Berkeley, CA, USA
- H. Meyer
- Center of Medical Biotechnology, Faculty of Biology, University of Duisburg-Essen, Essen, Germany
- T. Mozaffar
- Department of Neurology, University of California, Irvine, CA, USA
- C.U. Onyike
- Division of Geriatric Psychiatry and Neuropsychiatry, Johns Hopkins University School of Medicine, Baltimore, USA; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, USA
- G. Pfeffer
- Department of Clinical Neurosciences, University of Calgary, Calgary, Canada; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
- A. Pindon
- Cure VCP Disease, Warner Robins, GA, USA; Myhre Syndrome Foundation, Richardson, TX, USA
- M. Raman
- Department of Developmental Molecular and Chemical Biology, Tufts University School of Medicine, Boston, MA, USA
- I. Richard
- Généthon, 91000 Evry, France; Université Paris-Saclay, Université Evry, Inserm, Généthon, Integrare research unit UMR_S951, 91000 Evry, France
- D.C. Rubinsztein
- Cambridge Institute for Medical Research, University of Cambridge, CB2 0XY Cambridge, UK; UK Dementia Research Institute, Cambridge Biomedical Campus, Cambridge, UK
- M. Schiava
- The John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust, Center for Life, Central Parkway, Newcastle, Upon Tyne, United Kingdom
- A.K. Schütz
- Department of Chemistry and Pharmacy, Ludwig-Maximilians-Universität Munich, Munich, Germany
- P.S. Shen
- Department of Biochemistry, University of Utah, Salt Lake City, UT, USA
- D.R. Southworth
- Institute for Neurodegenerative Diseases, University of California, San Francisco, CA, USA
- A.M. Staffaroni
- UCSF Memory and Aging Center University of California San Francisco, CA, USA
- M. Taralio-Gravovac
- Department of Biochemistry & Molecular Biology, University of Calgary, Alberta, Calgary, Canada
- C.C. Weihl
- Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA
- Q. Yao
- Department of Medicine Stony Brook University, Renaissance School of Medicine, Stony Brook, NY, USA
- Y. Ye
- Laboratory of Molecular Biology, NIH, NIDDK, Bethesda, MD, USA
- N. Peck
- Cure VCP Disease, Warner Robins, GA, USA; Corresponding author at: Cure VCP Disease, 1302 Watson Blvd #1015, Warner Robins, GA 31093, USA.
- Journal volume & issue
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Vol. 207
p. 106861
Abstract
Valosin-containing protein (VCP/p97) is a ubiquitously expressed AAA+ ATPase associated with numerous protein-protein interactions and critical cellular functions including protein degradation and clearance, mitochondrial homeostasis, DNA repair and replication, cell cycle regulation, endoplasmic reticulum-associated degradation, and lysosomal functions including autophagy and apoptosis. Autosomal-dominant missense mutations in the VCP gene may result in VCP-associated multisystem proteinopathy (VCP-MSP), a rare degenerative disorder linked to heterogeneous phenotypes including inclusion body myopathy (IBM) with Paget's disease of bone (PDB) and frontotemporal dementia (FTD) or IBMPFD, amyotrophic lateral sclerosis (ALS), Alzheimer's disease (AD), parkinsonism, Charcot-Marie Tooth disease (CMT), and spastic paraplegia. The complexity of VCP-MSP makes collaboration among stakeholders essential and necessitates a multi-disciplinary approach.The 2024 VCP International Conference was hosted at Caltech between February 22 and 25. Co-organized by Cure VCP Disease and Dr. Tsui-Fen Chou, the meeting aimed to center the patient as a research partner, harmonize diverse stakeholder engagement, and bridge the gap between basic and clinical neuroscience as it relates to VCP-MSP. Over 100 multi-disciplinary experts attended, ranging from basic scientists to clinicians to patient advocates. Attendees discussed genetics and clinical presentation, cellular and molecular mechanisms underlying disease, therapeutic approaches, and strategies for future VCP research. The conference included three roundtable discussions, 29 scientific presentations, 32 scientific posters, nine patient and caregiver posters, and a closing discussion forum. The following conference proceedings summarize these sessions, highlighting both the identified gaps in knowledge and the significant strides made towards understanding and treating VCP diseases.
