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MUTATIONS AND RARE VARIANTS OF DESMIN GENE AS THE CAUSE OF DIFFERENT CARDIOMYOPATHIES

https://doi.org/10.18705/2311-4495-2014-0-3-62-72

Abstract

Objective. Several desmin mutations have been described over the past years in patients with dilated and restrictive cardiomyopathy, often in association with distal myopathy. However, the role of desmin mutations as a cause of various types of cardiomyopathy is still undetermined. The aim of this study was to analyse the frequency of desmin mutations in patients with dilated, hypertrophic and restrictive cardiomyopathy identified and diagnosed in the St. Petersburg area of Russia. Material, methods and results. We screened 98 patients with dilated, 40 with hypertrophic and 20 with restrictive cardiomyopathy. All exons of the desmin gene were amplified by PCR and studied by sequencing. Two of 98 patients with dilated cardiomyopathy and 1 patient with restrictive cardiomyopathy showed the presence of desmin gene mutations, not previously described. An A213V shift, suspected to represent a conditional mutation, was associated with a case of late-onset dilated cardiomyopathy. Functional studies confirmed mild structural defect caused by A213V variant and revealed by desmin and vimentin staining. No desmin mutations were found in patients with hypertrophic cardiomyopathy. We conclude that desmin mutations should be considered a relatively rare cause of dilated and restrictive cardiomyopathy. Rare desmin variant A213V causes mild structural defect on intracellular intermediate filament network.

About the Authors

A. Ya. Gudkova
Federal Almazov Medical Research Centre; Pavlov State Medical University
Russian Federation


N. A. Smolina
Federal Almazov Medical Research Centre; Pavlov State Medical University
Russian Federation


E. N. Semernin
Federal Almazov Medical Research Centre; Pavlov State Medical University
Russian Federation


A. N. Krutikov
Federal Almazov Medical Research Centre
Russian Federation


A. A. Kostareva
Federal Almazov Medical Research Centre; Pavlov State Medical University
Russian Federation


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Review

For citations:


Gudkova A.Ya., Smolina N.A., Semernin E.N., Krutikov A.N., Kostareva A.A. MUTATIONS AND RARE VARIANTS OF DESMIN GENE AS THE CAUSE OF DIFFERENT CARDIOMYOPATHIES. Translational Medicine. 2014;(3):62-72. (In Russ.) https://doi.org/10.18705/2311-4495-2014-0-3-62-72

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ISSN 2311-4495 (Print)
ISSN 2410-5155 (Online)