内分泌
词汇介绍
拓展阅读
解析
mitochondrial 英 /ˌmaɪtəʊˈkɒndriəl/ 美 /ˌmaɪtoʊˈkɑːndriəl/
释 义 adj. 线粒体的
例 句 The technique hasn't been approved for use in human reproduction, but could conceivably be used to prevent hereditary, often-fatal mitochondrial disease.该技术还没有被批准用于人类生殖,但可以设想会用于防止遗传性,这类通常是致命的线粒体疾病。
disease 英 /dɪˈziːz/ 美 /dɪˈziːz/
释 义 n. 病,[医] 疾病;弊病
vt. 传染;使…有病
同根词 diseased adj. 不健全的;患病的;病态的
diseased v. 使生病;传染
例 句 Rat-fleas communicate a disease to man.鼠蚤会把疾病传染给人。
概述
概述
线粒体疾病是由线粒体功能失调引起的一组疾病,线粒体是为细胞产生能量的细胞器。线粒体存在于人体除红血球以外的每个细胞中,并将食物分子的能量转化为能支持大多数细胞功能的ATP。线粒体疾病有时具有独特的特征,这既是由于疾病的遗传方式,又是因为线粒体对细胞功能至关重要。这些具有神经肌肉症状的疾病的亚类有时称为线粒体肌病。
病理机制
可用身体能量的有效总能量单位称为每日糖原生成能力,用于比较健康个体与患病或慢性糖原耗竭个体的线粒体输出。在给定的个人中,此值的更改速度很慢,因为它需要18到24个月才能完成一个完整的周期。糖原的生成能力完全取决于人体所有细胞中线粒体的运行水平,并由其决定;然而,线粒体产生的能量与糖原容量之间的关系非常松散,并由许多生化途径介导。完全健康的线粒体功能的能量输出可以通过一个复杂的理论论据精确地预测,但是这种论据并不简单,因为大多数能量是由大脑消耗的,并且不容易测量。
诊断方法
通常通过分析肌肉样品来检测线粒体疾病,这些细胞器的存在较高。用于检测这些疾病的最常见测试是:Southern blot检测大缺失或重复;PCR和特异性突变分析。
治疗方法
尽管研究正在进行中,但治疗选择目前有限。尽管有效证据有限,但经常开具维生素。丙酮酸在2007年被提议作为一种治疗选择。N-乙酰半胱氨酸逆转了许多线粒体功能障碍模型。对于情绪障碍,特别是躁郁症, N-乙酰半胱氨酸(NAC),乙酰-L-肉碱(ALCAR),S-腺苷甲硫氨酸(SAMe),辅酶Q10(CoQ10),α -硫辛酸(ALA)和褪黑激素可能是潜在的治疗选择。
Mitochondrial disease and endocrine dysfunction复制标题
线粒体病与内分泌功能障碍
发表时间:2017-02-01
影响指数:24.6
作者: Jasmine Chow
期刊:Nat Rev Endocrinol
Mitochondrial genetics is complicated by the contribution of two genomes: an intrinsic mitochondrial genome encoding 37 genes and the extrinsic nuclear genome, which contributes ~1,500 gene products targeted to the mitochondria, with 7% of the nuclear exome involved in producing these proteins. The mitochondrial genome is a maternally inherited 16,569 bp circular doublestranded DNA molecule that encodes 13 subunits of oxidative phosphorylation proteins, as well as two ribosomal RNA and 22 transfer RNA (tRNA) molecules that are needed for the intramitochondrial synthesis of these 13 proteins on mitochondrial ribosomes. The nuclearencoded components of the mitochondrial proteome include proteins needed for replication, maintenance and expression of the mitochondrial genome, such as numerous transcription and translation factors and ~80 ribosomal proteins. Additionally, mitochondrial import proteins and enzymes involved in the Krebs cycle, fattyacid β-oxidation and biosynthesis of cofactors and lipids, including the steroid hormones, are also encoded by nuclear genes. Mutations in both mitochondrial and nuclear genomes have been linked to mitochondrial diseases, including maternally inherited point mutations and sporadic large-scale rearrangements of the mitochondrial genome. Next-generation sequencing methods have led to an enormous increase in nuclear gene defects found to result in mitochondrial diseases, with >250 genetic defects already described. The majority of these nuclear defects are recessive, although some late-onset disorders are caused by dominant mutations and a few are X-linked (TABLE 1). Thus, mitochondrial diseases can exhibit any mode of inheritance: maternal, autosomal.
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