Department of Translational Research, Comprehensive Heart Failure Center, University Clinic Würzburg, Wurzburg, Germany.
"Victor Babes" University of Medicine and Pharmacy, Timisoara, Romania.
Curr Heart Fail Rep. 2023 Feb;20(1):76-87. doi: 10.1007/s11897-023-00592-3. Epub 2023 Feb 18.
We review pathophysiology and clinical features of mitochondrial disorders manifesting with cardiomyopathy.
Mechanistic studies have shed light into the underpinnings of mitochondrial disorders, providing novel insights into mitochondrial physiology and identifying new therapeutic targets. Mitochondrial disorders are a group of rare genetic diseases that are caused by mutations in mitochondrial DNA (mtDNA) or in nuclear genes that are essential to mitochondrial function. The clinical picture is extremely heterogeneous, the onset can occur at any age, and virtually, any organ or tissue can be involved. Since the heart relies primarily on mitochondrial oxidative metabolism to fuel contraction and relaxation, cardiac involvement is common in mitochondrial disorders and often represents a major determinant of their prognosis.
我们回顾了以心肌病为表现的线粒体疾病的病理生理学和临床特征。
机制研究揭示了线粒体疾病的基础，为线粒体生理学提供了新的见解，并确定了新的治疗靶点。线粒体疾病是一组罕见的遗传疾病，由线粒体 DNA（mtDNA）或对线粒体功能至关重要的核基因突变引起。临床表现极其多样化，发病年龄可在任何年龄，几乎任何器官或组织都可能受到影响。由于心脏主要依赖于线粒体氧化代谢来为收缩和舒张提供燃料，因此，线粒体疾病常伴有心脏受累，且往往是其预后的主要决定因素。
