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Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy

Liguori, Rocco ; Incensi, Alex ; de Pasqua, Silvia ; Mignani, Renzo ; Fileccia, Enrico ; Santostefano, Marisa ; Biagini, Elena ; Rapezzi, Claudio ; Palmieri, Silvia ; Romani, Ilaria ; Borsini, Walter ; Burlina, Alessandro ; Bombardi, Roberto ; Caprini, Marco ; Avoni, Patrizia ; Donadio, Vincenzo Malik, Rayaz Ahmed

PloS one, 2017-07, Vol.12 (7), p.e0180581-e0180581 [Periódico revisado por pares]

United States: Public Library of Science

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Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy
Autor: Liguori, Rocco ; Incensi, Alex ; de Pasqua, Silvia ; Mignani, Renzo ; Fileccia, Enrico ; Santostefano, Marisa ; Biagini, Elena ; Rapezzi, Claudio ; Palmieri, Silvia ; Romani, Ilaria ; Borsini, Walter ; Burlina, Alessandro ; Bombardi, Roberto ; Caprini, Marco ; Avoni, Patrizia ; Donadio, Vincenzo
Malik, Rayaz Ahmed
Assuntos: Adolescent ; Adult ; Axons ; Bioaccumulation ; Biology and Life Sciences ; Biopsy ; Cardiology ; Damage ; Deposits ; Enzymes ; Exocrine glands ; Fabry Disease - genetics ; Fabry's disease ; Female ; Fluorescent antibody technique ; Gangliosides ; Globotriaosylceramide ; Humans ; Immunofluorescence ; Innervation ; Laboratories ; Male ; Medical screening ; Medicine and Health Sciences ; Microscopy ; Middle Aged ; Mutation ; Nephrology ; Nervous system ; Neuropathy ; Neurosciences ; Pain ; Patients ; Peripheral neuropathy ; Skin ; Small Fiber Neuropathy - genetics ; Small Fiber Neuropathy - metabolism ; Tissues ; Trihexosylceramides - metabolism ; Young Adult
É parte de: PloS one, 2017-07, Vol.12 (7), p.e0180581-e0180581
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
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Competing Interests: Rocco Liguori received support from Scientific Press (meeting presentation) and has served as a paid consultant for Biogen and Sanofy-Genzyme (Advisory Board); Renzo Mignani has received travel grants and honoraria for presentations and advisory board meetings from SanofiGenzyme; Alessandro Burlina is member of the European Fabry Registry Board and received honoraria from Sanofi Genzyme and Amicus Therapeutics; Vincenzo Donadio reports CSL Behring travel grant for the 2016 Italian Society of Neurology meeting. The remaining authors have no conflicts of interest. This does not alter our adherence to PLOS ONE policies on sharing data and materials.
Descrição: Fabry Disease (FD) is characterized by globotriaosylceramide-3 (Gb3) accumulation in several tissues and a small fibre neuropathy (SFN), however the underlying mechanisms are poorly known. This study aimed to: 1) ascertain the presence of Gb3 deposits in skin samples, by an immunofluorescence method collected from FD patients with classical GLA mutations or late-onset FD variants or GLA polymorphisms; 2) correlate skin GB3 deposits with skin innervation. we studied 52 genetically-defined FD patients (32 with classical GLA mutations and 20 with late-onset variants or GLA polymorphisms), 15 patients with SFN associated with a specific cause and 22 healthy controls. Subjects underwent skin biopsy to evaluate Gb3 deposits and epi-dermal innervation. Skin Gb3 deposits were found in all FD patients with classical GLA mutations but never in FD patients with late-onset variants or GLA polymorphisms or in patients with SFN and healthy controls. Abnormal deposits were found inside different skin structures but never inside axons. FD patients with GB3 deposits showed lower skin innervation than FD patients with late-onset variants or polymorphisms. 1) Skin Gb3 deposits are specific to FD patients with classical GLA mutations; 2) Gb3 deposits were associated with lower skin innervation but they were not found inside axons, suggesting an indirect damage on peripheral small fibre innervation.
Editor: United States: Public Library of Science
Idioma: Inglês

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Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy

United States: Public Library of Science

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