Genetic advances in sarcomeric cardiomyopathies: state of the art.
Genetic advances in sarcomeric cardiomyopathies: state of the art.
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DOI：
10.1093/cvr/cvv025
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发表时间：
2015-04-01
影响因子：
10.8
通讯作者：
Pinto Y
中科院分区：
文献类型：
--
作者：
Ho CY;Charron P;Richard P;Girolami F;Van Spaendonck-Zwarts KY;Pinto Y
20世纪80年代和90年代的遗传学研究导致了具有里程碑意义的发现，即肌节突变会导致肥大性和扩张性心肌病。肌节突变也可能在更复杂的表型中发挥作用，并与具有肥大、扩张、舒张异常和致密化不全特征的心肌病重叠。这些重要疾病的遗传原因的鉴定提供了独特的机会来询问和表征疾病的发病机制和病理生理学，从分子水平开始并从那里扩展。有了这些见解，临床翻译有可能改变遗传性心肌病患者和家庭的管理。如果能够确定疾病发展的关键途径，它们可能成为新的疾病修饰或疾病预防疗法的靶点。通过利用基于基因的诊断测试，我们可以在临床疾病发作之前识别出有风险的个体，从而允许在生命早期开始疾病修饰治疗，此时这种治疗可能是最成功的。在本节中，我们回顾了遗传学在临床管理中的当前应用，重点是肥厚型心肌病作为一个范例;讨论了最先进的基因检测技术;回顾了肌节性心肌病基因表达的新知识;并讨论了将遗传学引入医学的前景和挑战。
Genetic studies in the 1980s and 1990s led to landmark discoveries that sarcomere mutations cause both hypertrophic and dilated cardiomyopathies. Sarcomere mutations also likely play a role in more complex phenotypes and overlap cardiomyopathies with features of hypertrophy, dilation, diastolic abnormalities, and non-compaction. Identification of the genetic cause of these important conditions provides unique opportunities to interrogate and characterize disease pathogenesis and pathophysiology, starting from the molecular level and expanding from there. With such insights, there is potential for clinical translation that may transform management of patients and families with inherited cardiomyopathies. If key pathways for disease development can be identified, they could potentially serve as targets for novel disease-modifying or disease-preventing therapies. By utilizing gene-based diagnostic testing, we can identify at-risk individuals prior to the onset of clinical disease, allowing for disease-modifying therapy to be initiated early in life, at a time that such treatment may be most successful. In this section, we review the current application of genetics in clinical management, focusing on hypertrophic cardiomyopathy as a paradigm; discuss state-of-the-art genetic testing technology; review emerging knowledge of gene expression in sarcomeric cardiomyopathies; and discuss both the prospects, as well as the challenges, of bringing genetics to medicine.
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影响因子：
39.3
作者：
Elliott, Perry M.;Anastasakis, Aris;Watkins, Hugh
通讯作者：
Watkins, Hugh
DOI：
10.4161/cc.9.8.11202
发表时间：
2010-04-15
期刊：
Cell cycle (Georgetown, Tex.)
影响因子：
--
作者：
Forman JJ;Coller HA
通讯作者：
Coller HA
影响因子：
64.5
作者：
GEISTERFERLOWRANCE, AAT;KASS, S;SEIDMAN, JG
通讯作者：
SEIDMAN, JG
影响因子：
2
作者：
Christiaans, Imke;van Langen, Irene M.;Smets, Ellen M. A.
通讯作者：
Smets, Ellen M. A.
影响因子：
5.7
作者：
Caleshu, Colleen;Day, Sharlene;Baxter, Samantha
通讯作者：
Baxter, Samantha