Introduction: Emerging research in mitochondrial disease.
Introduction: Emerging research in mitochondrial disease.
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简介：线粒体疾病的新兴研究。
DOI：
10.1002/ddrr.111
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发表时间：
2010
影响因子：
--
通讯作者：
Falk,MarniJ
中科院分区：
文献类型：
--
作者：
Falk,MarniJ
“线粒体疾病”通常会让人联想到能量缺乏症的模糊集合。然而，线粒体疾病现在被认为在所有年龄和种族中比以前认识到的更常见。尽管这种异质性多系统疾病的临床表现、遗传原因和治疗方法仍然很复杂，线粒体疾病不应再被视为一个无法穿透的黑匣子。本期DDRR中包含的13篇关于“线粒体疾病的新兴研究”的综述主要旨在使临床医生和研究人员熟悉神经系统疾病范围的最新理解。“危险信号”应该引起对特定类别线粒体疾病的怀疑。因此，这个问题被组织成四个主要部分：（1）线粒体医学的一般背景和观点，（2）线粒体疾病的主要神经发育表现的临床概述，（3）常见的可识别的分子和生化子集的主要线粒体疾病，和（4）线粒体疾病机制和新兴疗法。
“Mitochondrial disease” commonly evokes thoughts of a nebulous collection of energy deficiency disorders. However, mitochondrial disorders are now understood to be significantly more common across all ages and ethnicities than previously recognized. Although the clinical manifestations, genetic causes, and approaches to therapeutics for this heterogeneous group of multisystemic diseases remain complex, mitochondrial disease should no longer be viewed as an impenetrable black box.The 13 reviews included in this issue of DDRR on “Emerging Research in Mitochondrial Disease” are primarily intended to familiarize clinicians and researchers alike with an up-to-date understanding of the scope of neurologic “red flags” that should raise suspicion of particular classes of mitochondrial disease. Thus, this issue is organized into four major sections:(1) General background and perspective on mitochondrial medicine,(2) clinical overview of the major neurodevelopmental manifestations of mitochondrial disease,(3) common identifiable molecular and biochemical subsets of primary mitochondrial disease, and (4) mitochondrial disease mechanisms and emerging therapies.