Orsucci Daniele, Caldarazzo Ienco Elena, Rossi Andrea, Siciliano Gabriele, Mancuso Michelangelo
Unit of Neurology, San Luca Hospital, 55100 Lucca, Italy.
Medical Affairs and Scientific Communications, 1260 Nyon, Switzerland.
J Clin Med. 2021 Mar 17;10(6):1249. doi: 10.3390/jcm10061249.
In the last ten years, the knowledge of the genetic basis of mitochondrial diseases has significantly advanced. However, the vast phenotypic variability linked to mitochondrial disorders and the peculiar characteristics of their genetics make mitochondrial disorders a complex group of disorders. Although specific genetic alterations have been associated with some syndromic presentations, the genotype-phenotype relationship in mitochondrial disorders is complex (a single mutation can cause several clinical syndromes, while different genetic alterations can cause similar phenotypes). This review will revisit the most common syndromic pictures of mitochondrial disorders, from a clinical rather than a molecular perspective. We believe that the new phenotype definitions implemented by recent large multicenter studies, and revised here, may contribute to a more homogeneous patient categorization, which will be useful in future studies on natural history and clinical trials.
在过去十年中，线粒体疾病的遗传基础研究取得了显著进展。然而，与线粒体疾病相关的巨大表型变异性及其遗传学的独特特征，使线粒体疾病成为一组复杂的疾病。尽管特定的基因改变已与某些综合征表现相关联，但线粒体疾病的基因型-表型关系很复杂（单个突变可导致多种临床综合征，而不同的基因改变可导致相似的表型）。本综述将从临床而非分子角度重新审视线粒体疾病最常见的综合征表现。我们认为，近期大型多中心研究所采用并在此修订的新表型定义，可能有助于实现更统一的患者分类，这将对未来的自然史研究和临床试验有用。
