Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans.
Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans.
复制标题
DOI：
10.1038/gim.2016.200
复制
发表时间：
2017-07
期刊：
影响因子：
--
通讯作者：
Ruberg FL
中科院分区：
文献类型：
--
作者：
Buxbaum JN;Ruberg FL
自从鉴定出从迟发性心脏淀粉样变性患者心脏中提取的甲状腺素运载蛋白（TTR）衍生原纤维中122位的缬氨酸至异亮氨酸取代（TTR V122 I; pV 142 I）以来，已经清楚的是淀粉样突变和疾病几乎完全发生在可识别的非洲血统的个体中。在美国，淀粉样蛋白基因的等位基因频率为0.0173，并且由3.5%的社区居住的非洲裔美国人携带。整个非洲的基因分型表明，等位基因的起源是西非国家，这些国家是北美奴隶贸易的主要来源。在尸检中，发现该等位基因与所有65岁以上携带者的心脏TTR淀粉样蛋白沉积有关;然而，临床表现各不相同，导致一些携带者患上严重的心脏病，而另一些携带者几乎没有症状。该等位基因在10%的65岁以上患有严重充血性心力衰竭的非洲裔美国人中发现。目前，临床试验中存在潜在的治疗形式。高度准确的基因检测和特异性治疗的可能性相结合，需要在心脏病学界对这种常染色体显性遗传的年龄依赖性心脏病有更高的认识。
Since the identification of a valine-to-isoleucine substitution at position 122 (TTR V122I; pV142I) in the transthyretin (TTR)-derived fibrils extracted from the heart of a patient with late-onset cardiac amyloidosis, it has become clear that the amyloidogenic mutation and the disease occur almost exclusively in individuals of identifiable African descent. In the United States, the amyloidogenic allele frequency is 0.0173 and is carried by 3.5% of community-dwelling African Americans. Genotyping across Africa indicates that the origin of the allele is in the West African countries that were the major source of the slave trade to North America. At autopsy, the allele was found to be associated with cardiac TTR amyloid deposition in all the carriers after age 65 years; however, the clinical penetrance varies, resulting in substantial heart disease in some carriers and few symptoms in others. The allele has been found in 10% of African Americans older than age 65 with severe congestive heart failure. At this time there are potential forms of therapy in clinical trials. The combination of a highly accurate genetic test and the potential for specific therapy demands a greater awareness of this autosomal dominant, age-dependent cardiac disease in the cardiology community.
登录
查看更多内容
影响因子：
120.7
作者：
Berk, John L.;Suhr, Ole B.;Obici, Laura;Sekijima, Yoshiki;Zeldenrust, Steven R.;Yamashita, Taro;Heneghan, Michael A.;Gorevic, Peter D.;Litchy, William J.;Wiesman, Janice F.;Nordh, Erik;Corato, Manuel;Lozza, Alessandro;Cortese, Andrea;Robinson-Papp, Jessica;Colton, Theodore;Rybin, Denis V.;Bisbee, Alice B.;Ando, Yukio;Ikeda, Shu-ichi;Seldin, David C.;Merlini, Giampaolo;Skinner, Martha;Kelly, Jeffery W.;Dyck, Peter J.
通讯作者：
Dyck, Peter J.
DOI：
10.1161/circimaging.112.000132
发表时间：
2013-03-01
期刊：
Circulation. Cardiovascular imaging
影响因子：
--
作者：
Bokhari S;Castaño A;Pozniakoff T;Deslisle S;Latif F;Maurer MS
通讯作者：
Maurer MS
影响因子：
5.5
作者：
Ackermann, Elizabeth J.;Guo, Shuling;Monia, Brett P.
通讯作者：
Monia, Brett P.
影响因子：
3.4
作者：
Benson, MD;Kluve-Beckerman, B;Sloop, KW
通讯作者：
Sloop, KW
影响因子：
158.5
作者：
Coelho, Teresa;Adams, David;Suhr, Ole B.
通讯作者：
Suhr, Ole B.