(Circulation. 1999;100:461-464.)
© 1999 American Heart Association, Inc.
Brief Rapid Communications |
Desmin Mutation Responsible for Idiopathic Dilated Cardiomyopathy
From the Section of Cardiology (D.L., T.T., O.G., M.A.Q., W.A.Z., R.H., L.L.B., D.L.M., R.R.), Molecular Biology Computational Resource (P.E.B.), Baylor College of Medicine, Houston, Tex.
Background—Idiopathic dilated
cardiomyopathy, of which 
20% of cases are
familial (FDCM), is a primary myocardial disorder characterized by
ventricular dilatation and impaired systolic
function. It is a common cause of heart failure and the need for
cardiac transplantation. Although 6 chromosomal loci responsible for
autosomal dominant FDCM have been mapped by linkage analysis,
none of these genes have been identified. By use of the candidate-gene
approach, actin was identified recently as being responsible for
dilated cardiomyopathy. Considerable evidence
suggests desmin, a muscle-specific intermediate filament, plays a
significant role in cardiac growth and development.
Methods and Results—To determine whether a defect of desmin
induces dilated cardiomyopathy, 44 probands with
FDCM underwent clinical evaluation and DNA analysis.
Diagnostic criteria, detected by
echocardiography, consisted of
ventricular dimension of 
2.7 cm/m2 with an
ejection fraction 
50% in the absence of other potential causes.
After amplification by polymerase chain reaction, the exons of the
desmin gene were sequenced. A missense desmin mutation, Ile451Met,
which cosegregates with FDCM without clinically evident skeletal muscle
abnormalities, was identified in a 4-generation family but was not
detected in 460 unrelated healthy individuals.
Conclusions—A novel missense mutation of desmin, Ile451Met, was identified as the genetic cause of idiopathic dilated cardiomyopathy. This finding is of particular significance because this is the first mutation detected in the desmin tail domain, and the function of the desmin tail remains unknown. Because this mutation leads to a restricted cardiac phenotype in the family studied in the present report, it suggests that the tail of desmin plays an important functional role in cardiac tissue.
Key Words: cardiomyopathy • genes • desmin
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S. Morimoto, Q.-W. Lu, K. Harada, F. Takahashi-Yanaga, R. Minakami, M. Ohta, T. Sasaguri, and I. Ohtsuki Ca2+-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy PNAS, January 22, 2002; 99(2): 913 - 918. [Abstract] [Full Text] [PDF]
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J. Stypmann, K. Glaser, W. Roth, D. J. Tobin, I. Petermann, R. Matthias, G. Monnig, W. Haverkamp, G. Breithardt, W. Schmahl, et al. Dilated cardiomyopathy in mice deficient for the lysosomal cysteine peptidase cathepsin L PNAS, April 30, 2002; 99(9): 6234 - 6239. [Abstract] [Full Text] [PDF]
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N. Frey, J. A. Richardson, and E. N. Olson Calsarcins, a novel family of sarcomeric calcineurin-binding proteins PNAS, December 19, 2000; 97(26): 14632 - 14637. [Abstract] [Full Text] [PDF]
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