Mitochondrial mutations and hearing loss: Paradigm for mitochondrial genetics
Mitochondrial mutations and hearing loss: Paradigm for mitochondrial genetics
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DOI：
10.1086/301695
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发表时间：
1998-01-01
影响因子：
9.8
通讯作者：
Fischel-Ghodsian, N
中科院分区：
文献类型：
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作者：
Fischel-Ghodsian, N
Ahmanson儿科系、Steven Spielberg儿科研究中心、Cedars-Sinai医学中心和UCLA医学院，洛杉矶的研究表明，mtDNA突变与多种疾病有关，从罕见的神经肌肉综合征（缩写为KSS、MELAS、MERRF和NARP）到糖尿病、帕金森病和阿尔茨海默病等常见疾病（Wallace et al. 1995）。虽然对线粒体突变在这些疾病中的作用的研究有助于描述和分类氧化磷酸化障碍的谱和频率，但它并没有导致对两个主要临床和生物学问题的因素的理解：突变和组织特异性。这两个问题经常在基因型-表型相关性标题下集中在一起，但是，由于不同的分子途径可能解释这两种机制中的每一种，因此将它们分开可能是必要的。令人惊讶的是，由于线粒体突变导致的听力损失已经成为线粒体疾病，提供了一些答案。
Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center and UCLA School of Medicine, Los Angeles mtDNA mutations have been implicated in a great variety of diseases, ranging from rare neuromuscular syndromes, with acronyms such as KSS, MELAS, MERRF, and NARP, to such common conditions as diabetes, Parkinson disease, and Alzheimer disease (Wallace et al. 1995). While the study of the role of mitochondrial mutations in each of these diseases has helped to describe and catalogue the spectrum and frequency of oxidative phosphorylation disorders, it has not led to an understanding of the factors contributing to the two major clinical and biological issues: penetrance and tissue specificity. These two issues are frequently lumped together under the genotype-phenotype correlation heading, but, since different molecular pathways may account for each of the two mechanisms in question, keeping them separate may be warranted. Hearing loss due to mitochondrial mutations has, somewhat surprisingly, emerged as the mitochondrial disease that is providing some of the answers.