Experimental therapy of genetic arrhythmias: Disease-specific pharmacology

Research output: Chapter in Book/Report/Conference proceedingChapter

4 Citations (Scopus)

Abstract

The integration between molecular biology and clinical practice requires the achievement of fundamental steps to link basic science to diagnosis and management of patients. In the last decade, the study of genetic bases of human diseases has achieved several milestones, and it is now possible to apply the knowledge that stems from the identification of the genetic substrate of diseases to clinical practice. The first step along the process of linking molecular biology to clinical medicine is the identification of the genetic bases of inherited diseases. After this important goal is achieved, it becomes possible to extend research to understand the functional impairments of mutant protein(s) and to link them to clinical manifestations (genotype-phenotype correlation). In genetically heterogeneous diseases, it may be possible to identify locus-specific risk stratification and management algorithms. Finally, the most ambitious step in the study of genetic disease is to discover a novel pharmacological therapy targeted at correcting the inborn defect (locus-specific therapy) or even to "cure" the DNA abnormality by replacing the defective gene with gene therapy. At present, this curative goal has been successful only for very few diseases. In the field of inherited arrhythmogenic diseases, several genes have been discovered, and genetics is now emerging as a source of information contributing not only to a better diagnosis but also to risk stratification and management of patients. The functional characterization of mutant proteins has opened new perspectives about the possibility of performing genespecific or mutation-specific therapy. In this chapter, we will briefly summarize the genetic bases of inherited arrhythmogenic conditions and we will point out how the information derived from molecular genetics has influenced the "optimal use of traditional therapies" and has paved the way to the development of gene-specific therapy.

Original languageEnglish
Title of host publicationHandbook of Experimental Pharmacology
Pages267-286
Number of pages20
Volume171
DOIs
Publication statusPublished - 2006

Publication series

NameHandbook of Experimental Pharmacology
Volume171
ISSN (Print)01712004
ISSN (Electronic)18650325

Fingerprint

Investigational Therapies
Inborn Genetic Diseases
Cardiac Arrhythmias
Pharmacology
Molecular Biology
Risk Management
Mutant Proteins
Genetic Therapy
Molecular biology
Genes
Clinical Medicine
Medical Genetics
Genetic Association Studies
Therapeutics
Gene therapy
Medicine
Mutation
DNA
Research
Defects

Keywords

  • Cardiac arrhythmias
  • Gene specific therapy
  • Genetic
  • Genotype-phenotype correlation
  • Sudden death

ASJC Scopus subject areas

  • Pharmacology, Toxicology and Pharmaceutics(all)
  • Biochemistry

Cite this

Priori, S. G., Napolitano, C., & Cerrone, M. (2006). Experimental therapy of genetic arrhythmias: Disease-specific pharmacology. In Handbook of Experimental Pharmacology (Vol. 171, pp. 267-286). (Handbook of Experimental Pharmacology; Vol. 171). https://doi.org/10.1007/3-540-29715-4-10

Experimental therapy of genetic arrhythmias : Disease-specific pharmacology. / Priori, S. G.; Napolitano, C.; Cerrone, M.

Handbook of Experimental Pharmacology. Vol. 171 2006. p. 267-286 (Handbook of Experimental Pharmacology; Vol. 171).

Research output: Chapter in Book/Report/Conference proceedingChapter

Priori, SG, Napolitano, C & Cerrone, M 2006, Experimental therapy of genetic arrhythmias: Disease-specific pharmacology. in Handbook of Experimental Pharmacology. vol. 171, Handbook of Experimental Pharmacology, vol. 171, pp. 267-286. https://doi.org/10.1007/3-540-29715-4-10
Priori SG, Napolitano C, Cerrone M. Experimental therapy of genetic arrhythmias: Disease-specific pharmacology. In Handbook of Experimental Pharmacology. Vol. 171. 2006. p. 267-286. (Handbook of Experimental Pharmacology). https://doi.org/10.1007/3-540-29715-4-10
Priori, S. G. ; Napolitano, C. ; Cerrone, M. / Experimental therapy of genetic arrhythmias : Disease-specific pharmacology. Handbook of Experimental Pharmacology. Vol. 171 2006. pp. 267-286 (Handbook of Experimental Pharmacology).
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