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首页> 外文期刊>Forensic science international >Sarcomeric gene mutations in sudden infant death syndrome (SIDS)
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Sarcomeric gene mutations in sudden infant death syndrome (SIDS)

机译：婴儿猝死综合征（SIDS）的肌节基因突变

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In developed countries, sudden infant death syndrome (SIDS) represents the most prevalent cause of death in children between 1 month and 1 year of age. SIDS is a diagnosis of exclusion, a negative autopsy which requires the absence of structural organ disease.Although investigators have confirmed that a significant percentage of SIDS cases are actually channelopathies, no data have been made available as to whether other sudden cardiac death-associated diseases, such as hypertrophic cardiomyopathy (HCM), could be responsible for some cases of SIDS. The presence of a genetic mutation in the sarcomeric protein usually affects the force of contraction of the myocyte, whose weakness is compensated with progressive hypertrophy and disarray. However, it is unclear whether in the most incipient forms, that is, first years of life, the lack of these phenotypes still confers a risk of arrhythmogenesis. The main goal of the present study is to wonder whether genetic defects in the sarcomeric proteins, previously associated with HCM, could be responsible for SIDS.We have analysed 286 SIDS cases for the most common genes implicated in HCM in adults. A total of 680 mutations localised in 16 genes were analysed by semi-automated matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDITOF-MS) using the Sequenom MassARRAY ? System.Ten subjects with completely normal hearts showed mutated alleles at nine of the genetic variants analysed, and one additional novel mutation was detected by conventional sequencing. Therefore, a genetic mutation associated with HCM may cause sudden cardiac death in the absence of an identifiable phenotype.
机译：在发达国家，婴儿猝死综合症（SIDS）代表了1个月至1岁儿童中最普遍的死亡原因。 SIDS是一种排除性诊断，是一种阴性尸检，需要没有结构性器官疾病。尽管研究者已经确认SIDS病例中确实有很多是通道病，但尚无关于其他与心脏猝死相关的其他疾病的数据例如肥厚型心肌病（HCM），可能是某些小岛屿发展中国家的原因。肌节蛋白中存在基因突变通常会影响肌细胞的收缩力，肌无力可以通过进行性肥大和紊乱得到补偿。但是，尚不清楚是否以最早期的形式，即生命的最初几年，缺乏这些表型仍会导致心律失常的风险。本研究的主要目的是想知道以前与HCM相关的肌节蛋白中的遗传缺陷是否可能导致SIDS。我们分析了286例SIDS病例，其中涉及成年人HCM中最常见的基因。使用SequenomMassARRAY®半自动基质辅助激光解吸/电离飞行时间质谱（MALDITOF-MS）分析了定位在16个基因中的总共680个突变。 System.Ten的十名心脏完全正常的受试者在分析的九种遗传变异中显示了等位基因突变，并且通过常规测序检测到另外一种新的突变。因此，在缺乏可识别的表型的情况下，与HCM相关的基因突变可能会导致心脏猝死。

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