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.

• Legal notice:
  

  Copyright (c) Pielaszek Research, all rights reserved.
  The above materials, including auxiliary resources, are subject to Publisher's copyright and the Author(s) intellectual rights. Without limiting Author(s) rights under respective Copyright Transfer Agreement, no part of the above documents may be reproduced without the express written permission of Pielaszek Research, the Publisher. Express permission from the Author(s) is required to use the above materials for academic purposes, such as lectures or scientific presentations.
  In every case, proper references including Author(s) name(s) and URL of this webpage: https://science24.com/paper/22969 must be provided.

1. Detection of the poor metabolizer-associated CYP2D6 gene by long- and tetra-primer PCR technology
2. Role of gene polymorphism in the optimalisation of the treatment with vitamin K antagonist. 
3. The effect of sulphasalazine and 5-aminosalicylic acid on the human colon myofibroblasts
4. The antiproliferative effect of pterostilbene on colon cancer cells in vitro
5. Antiproliferative activity of inositol hexaphosphate against human skin melanoma cells
6. The effect of inositol hexaphosphate on the transcriptional activity of genes encoding cyclin D1 and histone H3 in human intestinal cells stimulated with interleukin 1β
7. Inhibition of inducible nitric oxide synthase expression by inositol hexaphosphate in cultured human colon cancer cells exposed to proinflammatory agents
8. Effect of phytic acid on the expression of IL-6, IL-8 and NFkB in human colonic epithelial cells treated with IL-1β  
9. The influence of TNF-α (tumor necrosis factor - alpha) on concentration of soluble adhesion molecules in cultures of HT-29 cells exposed to inositol hexaphosphate (IP6)
10. Phytic acid down-regulates IL-8 secretion from IL-1β stimulated colonic epithelial cells by influencing mitogen-activated protein kinase signaling pathway.
11. Impact of celecoxib on soluble intercellular adhesion molecule-1 (sICAM-1) and soluble E-cadherin (sE-cadherin) concentrations in human colon cancer cell line cultures exposed to phytic acid (IP6) and TNF-α (tumor necrosis factor-alpha)
12. The effect of inositol hexaphosphate on the transcriptional activity of genes encoding metalloproteinases and their tissue inhibitors in colon cancer cellsstimulated with phorbol-12-myristate 13-acetate
13. Modulation of the expression of genes encoding TGF-β isoforms and their receptors by inositol hexaphosphate in human colon cancer cells
14. Influence of troglitazone, sodium butyrate and 5-aminosalicylic acid on the chemokine ENA-78/CXCL5 secretion in the intestinal subepithelial myofibroblasts
15. The chelation ability of chosen metal ions by protective ointments containing Na₂H₂EDTA  and aminoacid
16. The influence of inositol hexaphosphate on the expression of genes encoding matrix metalloproteinases 2 and 9 and their tissue inhibitors in human colon cancer cells
17. Evaluation of transcriptional activity of genes encoding IL-6 and its receptor in colon cancer cells treated with phytic acid
18. The effect of inositol hexaphosphate on NFkB expression in human colon cancer cells
19. Transcriptional activity of interferon γ and two subunits of its receptor as molecular markers of myocarditis
20. Expression of matrix metalloproteinase 2 and matrix metalloproteinase 9 in laryngeal squamous cell carcinoma
21. Expression of genes of tumor necrosis factor -α and its receptors in colon cancer Caco-2 cells treated with inositol hexaphosphate
22. The influence of phytic acid on NFκB expression in human colon cancer cells
23. The degree of substitution of Desulfovibrio desulfuricans lipopolysaccharides and their lipid A component by phosphates
24. The comparison of free and melanin-bound lipofuscin isolated from pig iris
25. GROWTH OF HUMAN CHONDROCYTES ON BIODEGRADABLE SYNTHETIC POLYMERS
26. INFLUENCE OF SODIUM BUTYRATE ON ANTIOXIDATIVE ENZYMES ACTIVITY IN CACO-2 CELL LINES.
27. ANTI-PROLIFERATIVE EFFECTS OF INOSITOL HEXAPHOSPHATE AND VERAPAMIL ON HUMAN COLON CANCER CACO-2 AND HT-29 CELLS