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首页> 外文期刊>JACC. Cardiovascular imaging. >Human 'nuclear' mitochondrial cardiomyopathy a novel mouse model characterizes the disease.
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Human 'nuclear' mitochondrial cardiomyopathy a novel mouse model characterizes the disease.

机译:人的“核”线粒体心肌病是一种新型的小鼠模型。

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摘要

Mitochondria generate much of the energy for the cell by oxidative phosphorylation (1); accordingly, mitochondrial diseases preferentially affect tissues with high energy demands, such as the heart, brain, muscle, and endocrine system. The heart is affected either as an isolated organ (cardiomyopathies) or, more frequently, as one of the organs/tissues involved in more complex systemic disorders/ syndromes (including encephalomyopathies and chronic ophthalmoplegia with myopathy). Cardio-myopathy can represent the initial presentation of mitochondrial diseases (2). Because proteins contributing to energy production are encoded by both mitochondrial and nuclear genes, mitochondrial diseases can be inherited both as matrilineal (mitochondrial deoxyribonucleic acid [mtDNA] genes) and Mendelian (nuclear genes) traits (3).
机译:线粒体通过氧化磷酸化为细胞产生大量能量(1);因此,线粒体疾病会优先影响高能量需求的组织,例如心脏,大脑,肌肉和内分泌系统。心脏受到的影响要么是孤立的器官(心肌病),要么是更常见的器官/组织之一,涉及更复杂的系统性疾病/综合症(包括脑病和患有肌病的慢性眼肌麻痹)。心肌病可以代表线粒体疾病的最初表现(2)。由于有助于能量产生的蛋白质是由线粒体和核基因编码的,因此线粒体疾病既可以作为母系(线粒体脱氧核糖核酸[mtDNA]基因)也可以作为孟德尔(核基因)特征遗传(3)。

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