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Genetic pain loss disorders
A. Lischka, P. Lassuthova, A. Çakar, CJ. Record, J. Van Lent, J. Baets, MF. Dohrn, J. Senderek, A. Lampert, DL. Bennett, JN. Wood, V. Timmerman, T. Hornemann, M. Auer-Grumbach, Y. Parman, CA. Hübner, M. Elbracht, K. Eggermann, C. Geoffrey Woods,...
Jazyk angličtina Země Velká Británie
Typ dokumentu časopisecké články, přehledy, práce podpořená grantem
Grantová podpora
MR/R011737/1
Medical Research Council - United Kingdom
200183/Z/15/Z
Wellcome Trust - United Kingdom
21950
Versus Arthritis - United Kingdom
BRC-1215-20014
Department of Health - United Kingdom
NLK
ProQuest Central
od 2015-01-01 do Před 1 rokem
Health & Medicine (ProQuest)
od 2015-01-01 do Před 1 rokem
- MeSH
- bolest genetika MeSH
- dědičné senzorické a autonomní neuropatie * komplikace diagnóza genetika MeSH
- kanálopatie * MeSH
- kongenitální analgezie * genetika MeSH
- lidé MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
Genetic pain loss includes congenital insensitivity to pain (CIP), hereditary sensory neuropathies and, if autonomic nerves are involved, hereditary sensory and autonomic neuropathy (HSAN). This heterogeneous group of disorders highlights the essential role of nociception in protecting against tissue damage. Patients with genetic pain loss have recurrent injuries, burns and poorly healing wounds as disease hallmarks. CIP and HSAN are caused by pathogenic genetic variants in >20 genes that lead to developmental defects, neurodegeneration or altered neuronal excitability of peripheral damage-sensing neurons. These genetic variants lead to hyperactivity of sodium channels, disturbed haem metabolism, altered clathrin-mediated transport and impaired gene regulatory mechanisms affecting epigenetic marks, long non-coding RNAs and repetitive elements. Therapies for pain loss disorders are mainly symptomatic but the first targeted therapies are being tested. Conversely, chronic pain remains one of the greatest unresolved medical challenges, and the genes and mechanisms associated with pain loss offer new targets for analgesics. Given the progress that has been made, the coming years are promising both in terms of targeted treatments for pain loss disorders and the development of innovative pain medicines based on knowledge of these genetic diseases.
Centre for Neuromuscular Diseases UCL Queen Square Institute of Neurology London UK
Department of Clinical Chemistry University Hospital Zurich University of Zurich Zurich Switzerland
Department of Neurology Medical Faculty Uniklinik RWTH Aachen University Aachen Germany
Department of Orthopedics and Trauma Surgery Medical University of Vienna Vienna Austria
Friedrich Baur Institute Department of Neurology Ludwig Maximilians University Munich Germany
Institute of Human Genetics Medical Faculty Uniklinik RWTH Aachen University Aachen Germany
Institute of Human Genetics University Hospital Jena Jena Germany
Institute of Physiology Medical Faculty Uniklinik RWTH Aachen University Aachen Germany
Laboratory of Neuromuscular Pathology Institute Born Bunge Antwerp Belgium
Neuromuscular Reference Centre Department of Neurology Antwerp University Hospital Antwerp Belgium
Nuffield Department of Clinical Neuroscience Oxford University Oxford UK
Citace poskytuje Crossref.org
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