• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

在一个患有肥厚型心肌病的多样化猫群中,未发现已知的猫肌球蛋白重链 7(MYH7)和肌球蛋白结合蛋白 C3(MYBPC3)变异体。

Absence of known feline MYH7 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy.

机构信息

Department of Veterinary Clinical Sciences, College of Veterinary Medicine, North Carolina State University, A227, Main CVM, 1060 William Moore Drive, Raleigh, NC, 27607, USA.

出版信息

Anim Genet. 2021 Aug;52(4):542-544. doi: 10.1111/age.13074. Epub 2021 May 10.

DOI:10.1111/age.13074
PMID:33970514
Abstract

Hypertrophic cardiomyopathy (HCM) is the most common cause of heart disease in the domestic cat with a genetic predisposition in a few breeds. In the Maine Coon and Ragdoll breeds, two variants associated with the HCM phenotype have been identified in the cardiac myosin binding protein C gene (MYBPC3; p.Ala31Pro and p.Arg820Trp respectively), and a single variant has been identified in the myosin heavy chain gene (MYH7; p.Glu1883Lys) in one domestic cat with HCM. It is not known if these variants influence the development of HCM in other cohorts of the feline population. The objective of this study was to evaluate the presence of the known MYBPC3 and MYH7 variants in a population of cats with HCM. DNA was isolated from samples collected from non-Ragdoll and non-Maine Coon domestic cats diagnosed with HCM through the North Carolina State University College of Veterinary Medicine and genotyped for the three variants. One-hundred and three DNA samples from cats with HCM were evaluated from domestic shorthair, domestic longhair and purebred cats. All samples were wt for the MYBPC3 and MYH7 variants. Although this study was limited by its inclusion of cats from one tertiary hospital, the lack of these MYBPC3 and MYH7 variants in this feline HCM population indicates that the clinical utility of genetic testing for these variants may be isolated to the two cat breeds in which these variants have been identified. Further studies to identify the causative variants for the feline HCM population are warranted.

摘要

肥厚型心肌病(HCM)是家猫中最常见的心脏病病因,少数品种存在遗传易感性。在缅因猫和布偶猫品种中,已在心肌肌球蛋白结合蛋白 C 基因(MYBPC3;分别为 p.Ala31Pro 和 p.Arg820Trp)中鉴定出与 HCM 表型相关的两个变体,在一只患有 HCM 的家猫中也已在肌球蛋白重链基因(MYH7;p.Glu1883Lys)中鉴定出一个变体。尚不清楚这些变体是否会影响其他猫群中 HCM 的发展。本研究的目的是评估已知的 MYBPC3 和 MYH7 变体在家猫 HCM 群体中的存在情况。从北卡罗来纳州立大学兽医学院诊断患有 HCM 的非布偶猫和非缅因猫的样本中分离出 DNA,并对这三种变体进行基因分型。对来自家短毛猫、家长毛猫和纯种猫的 103 份患有 HCM 的猫的 DNA 样本进行了评估。所有样本均为 MYBPC3 和 MYH7 变体的 wt。尽管本研究受到其纳入来自一家三级医院的猫的限制,但这些猫的 HCM 群体中缺乏这些 MYBPC3 和 MYH7 变体表明,针对这些变体的基因检测的临床效用可能仅限于已鉴定出这些变体的两个猫品种。需要进一步研究以确定家猫 HCM 群体的致病变体。

相似文献

1
Absence of known feline MYH7 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy.在一个患有肥厚型心肌病的多样化猫群中,未发现已知的猫肌球蛋白重链 7(MYH7)和肌球蛋白结合蛋白 C3(MYBPC3)变异体。
Anim Genet. 2021 Aug;52(4):542-544. doi: 10.1111/age.13074. Epub 2021 May 10.
2
A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat.一种人类 MYH7 c.5647G>A(p.(Glu1883Lys))变异的猫科动物同源物导致一只家短毛猫发生肥厚型心肌病。
Eur J Hum Genet. 2019 Nov;27(11):1724-1730. doi: 10.1038/s41431-019-0431-4. Epub 2019 Jun 4.
3
Analysis of 8 sarcomeric candidate genes for feline hypertrophic cardiomyopathy mutations in cats with hypertrophic cardiomyopathy.对患有肥厚性心肌病的猫的8个肌节候选基因进行猫肥厚性心肌病突变分析。
J Vet Intern Med. 2009 Jul-Aug;23(4):840-3. doi: 10.1111/j.1939-1676.2009.0341.x.
4
The genetic basis of hypertrophic cardiomyopathy in cats and humans.猫和人类肥厚型心肌病的遗传基础。
J Vet Cardiol. 2015 Dec;17 Suppl 1(Suppl 1):S53-73. doi: 10.1016/j.jvc.2015.03.001.
5
Precision medicine validation: identifying the 3 A31P variant with whole-genome sequencing in two Maine Coon cats with hypertrophic cardiomyopathy.精准医学验证:在两只患有肥厚性心肌病的缅因猫中通过全基因组测序鉴定3 A31P变体。
J Feline Med Surg. 2019 Dec;21(12):1086-1093. doi: 10.1177/1098612X18816460. Epub 2018 Dec 18.
6
Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan.在日本患有肥厚型心肌病的不同品种猫群中存在已知的猫 ALMS1 和 MYBPC3 变异体。
PLoS One. 2023 Apr 18;18(4):e0283433. doi: 10.1371/journal.pone.0283433. eCollection 2023.
7
Myosin-binding protein C DNA variants in domestic cats (A31P, A74T, R820W) and their association with hypertrophic cardiomyopathy.家猫肌球蛋白结合蛋白 C DNA 变异体(A31P、A74T、R820W)及其与肥厚型心肌病的关系。
J Vet Intern Med. 2013 Mar-Apr;27(2):275-85. doi: 10.1111/jvim.12031. Epub 2013 Jan 17.
8
Genetics of feline hypertrophic cardiomyopathy.猫肥厚型心肌病的遗传学。
Clin Genet. 2020 Sep;98(3):203-214. doi: 10.1111/cge.13743. Epub 2020 Apr 1.
9
Association of the myosin binding protein C3 mutation (MYBPC3 R820W) with cardiac death in a survey of 236 Ragdoll cats.在一项对236只布偶猫的调查中,肌球蛋白结合蛋白C3突变(MYBPC3 R820W)与心源性死亡的关联
J Vet Cardiol. 2014 Jun;16(2):73-80. doi: 10.1016/j.jvc.2014.03.005. Epub 2014 May 19.
10
Prevalence of the MYBPC3-A31P mutation in a large European feline population and association with hypertrophic cardiomyopathy in the Maine Coon breed.欧洲大型猫科动物群体中MYBPC3 - A31P突变的患病率及其与缅因库恩猫品种肥厚型心肌病的关联。
J Vet Cardiol. 2010 Dec;12(3):155-61. doi: 10.1016/j.jvc.2010.06.004. Epub 2010 Nov 3.

引用本文的文献

1
Unraveling the Genetics of Feline Hypertrophic Cardiomyopathy: A Multiomics Study of 138 Cats.解析猫肥厚性心肌病的遗传学:对138只猫的多组学研究
G3 (Bethesda). 2025 Jul 3. doi: 10.1093/g3journal/jkaf153.
2
Influence of Signalment Variables on Body Weight-Normalized Echocardiographic Measurements of Heart Size in 56 169 Adult Unsedated Normal Pure-Bred Cats.56169只未镇静成年纯种正常猫的体征变量对体重标准化心脏大小超声心动图测量值的影响
J Vet Intern Med. 2025 Jul-Aug;39(4):e70146. doi: 10.1111/jvim.70146.
3
Clinical-Diagnostic and Therapeutic Advances in Feline Hypertrophic Cardiomyopathy.
猫肥厚性心肌病的临床诊断与治疗进展
Vet Sci. 2025 Mar 19;12(3):289. doi: 10.3390/vetsci12030289.
4
MicroRNA profiling of the feline left heart identifies chamber-specific expression signatures in health and in advanced hypertrophic cardiomyopathy.猫左心的微小RNA分析确定了健康和晚期肥厚型心肌病中特定腔室的表达特征。
J Mol Cell Cardiol Plus. 2023 Jun 2;4:100037. doi: 10.1016/j.jmccpl.2023.100037. eCollection 2023 Jun.
5
Metabolic abnormalities and reprogramming in cats with naturally occurring hypertrophic cardiomyopathy.自然发生肥厚型心肌病猫的代谢异常与重编程
ESC Heart Fail. 2025 Apr;12(2):1256-1270. doi: 10.1002/ehf2.15135. Epub 2024 Nov 5.
6
Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines.根据美国医学遗传学与基因组学学会指南对猫肥厚型心肌病相关基因变异进行分类。
Front Vet Sci. 2024 Feb 2;11:1327081. doi: 10.3389/fvets.2024.1327081. eCollection 2024.
7
Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan.在日本患有肥厚型心肌病的不同品种猫群中存在已知的猫 ALMS1 和 MYBPC3 变异体。
PLoS One. 2023 Apr 18;18(4):e0283433. doi: 10.1371/journal.pone.0283433. eCollection 2023.
8
The Feline Cardiomyopathies: 2. Hypertrophic cardiomyopathy.猫心肌病:2. 肥厚型心肌病。
J Feline Med Surg. 2021 Nov;23(11):1028-1051. doi: 10.1177/1098612X211020162.