The Heart in Friedreich's Ataxia: Basic Findings and Clinical Implications.
The Heart in Friedreich's Ataxia: Basic Findings and Clinical Implications.
复制标题
DOI：
10.1016/j.ppedcard.2011.02.007
复制
发表时间：
2011-05
影响因子：
0.9
通讯作者：
Payne, R Mark
中科院分区：
文献类型：
--
作者：
Payne, R Mark
弗里德赖希共济失调是人类最常见的遗传性共济失调。这是一种线粒体疾病，由铁结合蛋白frataxin的表达严重减少引起。编码该蛋白的人类FRDA基因中大量GAA三联体扩增抑制该基因的表达。它以常染色体隐性遗传模式遗传，通常在儿童时期诊断。主要症状包括严重和进行性神经病变，以及可能导致死亡的肥厚性心肌病。心肌病难以治疗，常伴有心律失常、心力衰竭和不耐受心血管压力（如手术）。创新的治疗方法，如组蛋白去乙酰化酶抑制剂和细胞渗透肽融合蛋白替代酶，为这种疾病和其他类似的线粒体疾病带来了希望。本文将重点介绍该病的基本发现，以及与该病诊断相关的心肌病。
Friedreich’s Ataxia is the most common inherited ataxia in man. It is a mitochondrial disease caused by severely reduced expression of the iron binding protein, frataxin. A large GAA triplet expansion in the human FRDA gene encoding this protein inhibits expression of this gene. It is inherited in an autosomal recessive pattern and typically diagnosed in childhood. The primary symptoms include severe and progressive neuropathy, and a hypertrophic cardiomyopathy that may cause death. The cardiomyopathy is difficult to treat and is frequently associated with arrhythmias, heart failure, and intolerance of cardiovascular stress, such as surgeries. Innovative approaches to therapy, such as histone deacetylase inhibitors, and enzyme replacement with cell penetrant peptide fusion proteins, hold promise for this and other similar mitochondrial disorders. This review will focus on the basic findings of this disease, and the cardiomyopathy associated with its diagnosis.