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Characterisation of the pathophysiology of neuropathy and sensory dysfunction in a mouse model of recessive dystrophic epidermolysis bullosa

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dc.contributor.authorSchmidt, Daniela
dc.contributor.authorDíaz, Paula
dc.contributor.authorMuñoz, Daniela
dc.contributor.authorEspinoza, Fernanda
dc.contributor.authorNystrom, Alexander
dc.contributor.authorFuentes, Ignacia
dc.contributor.authorEzquer, Marcelo
dc.contributor.authorBennett, David L.
dc.contributor.authorCalvo, Margarita
dc.date.accessioned2023-05-04T14:33:49Z
dc.date.available2023-05-04T14:33:49Z
dc.date.issued2022
dc.description.abstractRecessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic condition in which mutations in the type VII collagen gene ( COL7A1 ) lead to decreased expression of this anchoring protein of the skin, causing the loss of stability at the dermo-epidermal junction. Most patients with RDEB experience neuropathic pain and itch due to the development of a small fibre neuropathy, characterised by decreased intraepidermal innervation and thermal hypoaesthesia. To understand the physiopathology of this neuropathy, we used a mouse model of RDEB (Col7a1 flNeo/flNeo ) and performed a detailed characterisation of the somatosensory system. Col7a1 flNeo/flNeo mice showed a decrease in heat sensitivity, an increase in spontaneous scratching, and a significant decrease in intraepidermal nerve fibre density in the hindpaw; these changes were distal because there was no significant loss of unmyelinated or myelinated fibres in the nerve trunk. Of interest, we observed a decrease in axon diameter in both myelinated and unmyelinated fibres. This axonal damage was not associated with inflammation of the dorsal root ganglion or central projection targets at the time of assessment. These results suggest that in RDEB, there is a distal degeneration of axons produced by exclusive damage of small fibres in the epidermis, and in contrast with traumatic and acute neuropathies, it does not induce sustained neuroinflammation. Thus, this animal model emphasizes the importance of a healthy cutaneous environment for maintenance of epidermal innervation and faithfully replicates the pathology in humans, offering the opportunity to use this model in the development of treatments for pain for patients with RDEB.
dc.description.versionVersión publicada
dc.identifier.citationSchmidt D, Díaz P, Muñoz D, Espinoza F, Nystrom A, Fuentes I, Ezquer M, Bennett DL, Calvo M. Characterisation of the pathophysiology of neuropathy and sensory dysfunction in a mouse model of recessive dystrophic epidermolysis bullosa. Pain. 2022 Oct 1;163(10):2052-2060. doi: 10.1097/j.pain.0000000000002599
dc.identifier.doihttps://doi.org/10.1097/j.pain.0000000000002599
dc.identifier.urihttps://repositorio.udd.cl/handle/11447/7453
dc.language.isoen
dc.subjectRDEB
dc.subjectMouse model
dc.subjectNeuropathy
dc.subjectNeuropathic pain
dc.subjectSmall-fibre neuropathy
dc.titleCharacterisation of the pathophysiology of neuropathy and sensory dysfunction in a mouse model of recessive dystrophic epidermolysis bullosa
dc.typeArticle
dcterms.accessRightsPrivado
dcterms.sourcePain
dspace.entity.typePublication

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