Document Detail

Gene polymorphism of myospryn (cardiomyopathy-associated 5) is associated with left ventricular wall thickness in patients with hypertension.
MedLine Citation:
PMID:  18344630     Owner:  NLM     Status:  MEDLINE    
We examined a gene polymorphism of a novel Z-disc-related protein, myospryn (cardiomyopathy-associated 5). We focused on one haplotype block associated with a tag single nucleotide polymorphism (SNP) that covered 16 of 27 coding SNPs with linkage disequilibrium (minor allele frequency 0.413). Screening a myospryn polymorphism (K2906N) in a general health check-up of a rural Japanese population revealed an association with cardiac diseases (p=0.0082). In further analysis of the interaction between K2906N and cardiac function in patients, K2906N was associated with the anteroseptal wall thickness of the left ventricle in a recessive model (p=0.0324) and with the ratio of the peak velocity of the early diastolic filling wave to the peak velocity of atrial filling (A/E) (p=0.0278). In an association study based on left ventricular wall thickness, we found a significant difference in the K2906N genotype between controls and patients with cardiac hypertrophy. These results suggest that the K2906N polymorphism could be clinically associated with left ventricular hypertrophy and diastolic dysfunction independent of known parameters. Although the precise mechanism underlying this association remains to be elucidated, treatment with angiotensin II induced an increase in heart myospryn mRNA level in vitro and in vivo. Our results suggest that the polymorphism of myospryn is associated with left ventricular hypertrophy, and an association between a Z-disc protein and cardiac adaptation in response to pressure overload.
Hironori Nakagami; Yasushi Kikuchi; Tomohiro Katsuya; Ryuichi Morishita; Hiroshi Akasaka; Shigeyuki Saitoh; Hiromi Rakugi; Yasufumi Kaneda; Kazuaki Shimamoto; Toshio Ogihara
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Hypertension research : official journal of the Japanese Society of Hypertension     Volume:  30     ISSN:  0916-9636     ISO Abbreviation:  Hypertens. Res.     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2008-03-17     Completed Date:  2008-04-24     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9307690     Medline TA:  Hypertens Res     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  1239-46     Citation Subset:  IM    
Division of Gene Therapy Science, Graduate School of Medicine, Osaka University, Suita, Japan.
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MeSH Terms
Aged, 80 and over
Angiotensin II / pharmacology
Case-Control Studies
Cells, Cultured
Disease Models, Animal
Heart Ventricles / metabolism,  pathology,  ultrasonography
Hypertension / complications*,  genetics*
Hypertrophy, Left Ventricular / etiology*,  genetics*,  pathology
Linkage Disequilibrium / genetics
Mice, Inbred C57BL
Middle Aged
Muscle Proteins / genetics*,  metabolism
Myocytes, Cardiac / drug effects,  metabolism,  pathology
Polymorphism, Single Nucleotide / genetics*
Rats, Sprague-Dawley
Vasoconstrictor Agents / pharmacology
Reg. No./Substance:
0/CMYA5 protein, human; 0/Muscle Proteins; 0/Vasoconstrictor Agents; 11128-99-7/Angiotensin II

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