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Microsatellite markers analysis in the treatment and diagnosis of familial hypertrophic cardiomyopathy

Sławomir Smolik ,  Dorota Domal-Kwiatkowska ,  Małgorzata Kapral ,  Ludmiła Węglarz 

Medical University of Silesia, Department of Biochemistry, Narcyzow 1, Sosnowiec 41-200, Poland


Familial hypertrophic cardiomyopathy (FHCM) is characterized by an autosomal dominant transmission, left ventricular hypertrophy and myocardial disorganisation. So far, thirteen genetic loci and more than 130 mutations in various  genes have been identified. Recent studies suggested the impaired energy production associated with inefficient use of ATP as the main disease cause. In the present study, haplotype analysis with the use of microsatellite markers linked with beta-myosin heavy chain, troponin T, alpha-tropomyosin and cardiac myosin protein C genes in three Polish families (A, B and C) with hypertrophic cardiomyopathy (23 individuals) was performed. This method is based on the analysis of distribution of the disease within the family members and that of the alleles of chosen microsatellite markers. In families A and B, the disease was found to be coupled with beta-myosin heavy chain gene and the presence of the mutation in exon 13 of this gene associated with poor prognosis was excluded by restrictive fragment length polymorphism and multitemperature single strand conformation polymorphism analysis. Genetic carrier of the mutant gene among children in family B was also found. In family C the coupling of the disease with the mutation of alpha-tropomyosin gene was confirmed, no sudden cardiac death was charted and the degree of myocardial hypertrophy was small. The linkage analysis results confirmed by statistical analysis in the examined families was helpful in choosing the appropriate pharmacological therapy to prevent their members from sudden cardiac death.


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Related papers

Presentation: Poster at VII Multidyscyplinarna Konferencja Nauki o Leku, by Sławomir Smolik
See On-line Journal of VII Multidyscyplinarna Konferencja Nauki o Leku

Submitted: 2010-03-13 17:09
Revised:   2010-03-13 17:17