Immunohistochemical marker for Na+ CP type Valpha (C-20) and heterozygous nonsense SCN5A mutation W822X in a sudden cardiac death induced by mild anaphylactic reaction.

A sudden death likely due to mild anaphylactic reaction in a young man is described. Autoptic, histologic, immunohistochemical, and laboratory findings were strongly consistent with the diagnosis of a mild anaphylactic reaction. Genetic molecular analysis, performed on formalin-fixed, paraffin-embedded tissues, showed a mutation described as W822X in a family with electrocardiographic pattern typical of Brugada Syndrome. It results in a nonsense mutation generating a truncated form of the channel protein. The mutation is due to a point substitution of a guanine with an adenine residue (G2466A). Immunohistochemistry and laser scanning confocal microscopy on sections from heart formalin-fixed, paraffin-embedded tissues led us to confirm the cellular localization of the Na+ CP type V[alpha] (C-20) at the intercalated disks of ventricular myocytes and nearly 50% reduction in Na+ channels expression in ventricular myocytes when compared with control cases. We suggest that the anaphylactic reaction that occurred in the young man could serve as a trigger mechanism, responsible for his sudden death with a SCN5A mutation associated with the Brugada syndrome.

Data di pubblicazione: 2009
Titolo: Immunohistochemical marker for Na+ CP type Valpha (C-20) and heterozygous nonsense SCN5A mutation W822X in a sudden cardiac death induced by mild anaphylactic reaction.
Autori: Turillazzi E; Pomara C; La Rocca G; Neri M; Riezzo I; Karch SB; Anzalone R; Lo Iacono M; Fineschi V.
Rivista: APPLIED IMMUNOHISTOCHEMISTRY AND MOLECULAR MORPHOLOGY
Parole Chiave: Na+ CP type V[alpha] (C-20); confocal laser scanning microscopy; immunohistochemistry; sodium channel; channellopathies; W822X; sudden cardiac death
Abstract in inglese: A sudden death likely due to mild anaphylactic reaction in a young man is described. Autoptic, histologic, immunohistochemical, and laboratory findings were strongly consistent with the diagnosis of a mild anaphylactic reaction. Genetic molecular analysis, performed on formalin-fixed, paraffin-embedded tissues, showed a mutation described as W822X in a family with electrocardiographic pattern typical of Brugada Syndrome. It results in a nonsense mutation generating a truncated form of the channel protein. The mutation is due to a point substitution of a guanine with an adenine residue (G2466A). Immunohistochemistry and laser scanning confocal microscopy on sections from heart formalin-fixed, paraffin-embedded tissues led us to confirm the cellular localization of the Na+ CP type V[alpha] (C-20) at the intercalated disks of ventricular myocytes and nearly 50% reduction in Na+ channels expression in ventricular myocytes when compared with control cases. We suggest that the anaphylactic reaction that occurred in the young man could serve as a trigger mechanism, responsible for his sudden death with a SCN5A mutation associated with the Brugada syndrome.
Handle: http://hdl.handle.net/11392/2357106
Appare nelle tipologie:03.1 Articolo su rivista

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