Common Mitochondrial DNA Deletion Associated With Sudden Natural Death in Adults

    Volume 49, Issue 6 (November 2004)

    ISSN: 0022-1198

    CODEN: JFSOAD

    Published Online: 1 November 2004

    Page Count: 4


    Corach, D
    Servicio de Huellas Digitales Genéticas, Cátedra de Genética y Biología Molecular, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires,

    Polisecki, EY
    Servicio de Huellas Digitales Genéticas, Cátedra de Genética y Biología Molecular, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires,

    Ravioli, J
    Cátedra de Medicina Legal, Facultad de Medicina, Universidad de Buenos Aires,

    Schreier, LE
    Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires,

    (Received 22 February 2004; accepted 20 June 2004)

    Abstract

    One of the most frequent causes of death in developed countries is sudden natural death (SND), which is the most common indication for medico-legal autopsies. Cardiac diseases are frequently detected among SND. Mitochondrial DNA (mtDNA) is easily damaged by reactive oxygen species, and it may cause dysfunction in tissues, leading to early events in cardiovascular disease. A specific mtDNA deletion of 4977 bp is associated to aging, myocardial dysfunction, and bioenergetic deficit. The potential link between mtDNA damage and SND has not been investigated before. Our aim was to evaluate the accumulation of the common mtDNA4977-deletion in cardiac muscle samples from autopsies of SND in adults (n = 14) in comparison to control samples from unnatural deaths (n = 12). Serial dilution-polymerase chain reaction method was performed to estimate the proportion of the total mtDNA harboring the mtDNA4977-deletion. Coefficient variation intra-assay was 8%, and inter-assay was 12%. MtDNA4977-deletion percentage was higher in samples obtained from victims of SND than in those from subjects who died of unnatural causes (p < 0.05). No differences in mtDNA4977-deletion were found between SND victims 39–51 years old, and no correlation was found between these samples and age, r = 0.30, p = 0.29 while it was significant among control samples, r = 0.68, p < 0.05. The association between mtDNA4977 deletion with SND victims might offer a tool to provide additional information to clarify complex SND investigations.


    Paper ID: JFS2004073

    DOI: 10.1520/JFS2004073

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    Title Common Mitochondrial DNA Deletion Associated With Sudden Natural Death in Adults
    Symposium , 0000-00-00
    Committee E30