The genetic investigation of old tissue samples paraffin-embedded as source for molecular autopsies in sudden cardiac death cases

November 17, 2014

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Article Title:	The genetic investigation of old tissue samples paraffin-embedded as source for molecular autopsies in sudden cardiac death cases
Authors:	Bulzan O., Precup C., Tămaş L.A., Anghel A., Şeclăman E., Enache A.
Affiliation:	1Department, Faculty Of Medicine, Pharmacy And Dental Medicine, “Vasile Goldis” Western University Of Arad, Romania, Doctoral School – “Victor Babes” University of Medicine and Pharmacy Timisoara, Romania; Arad County Department Of Forensic Medicine 2Anatomy Department, Faculty Of Medicine, Pharmacy And Dental Medicine, “Vasile Goldis” Western University Of Arad, Romania, Chief of Arad County Department Of Forensic Medicine, Arad Clinical County Emergency Hospital, Romania 3*,Victor Babeş” University of Medicine and Pharmacy from Timişoara, Faculty of Medicine, Biochemistry and Pharmacology Department, Eftimie Murgu Nr. 2, 300041, Timişoara, Romania; 3Victor Babeş” University of Medicine and Pharmacy, Faculty of Medicine, Biochemistry and Pharmacology Department. 3Victor Babeş” University of Medicine and Pharmacy, Faculty of Medicine, Biochemistry and Pharmacology Department. 4Victor Babeş” University of Medicine and Pharmacy, Faculty of Medicine, Department of Legal Medicine, Bioethics, Deontology and Medical Law; Institute of Legal Medicine, Timişoara, România.
Abstract:	Sudden cardiac death (SCD) is a major cause of death in young adults and children. Standard forensic autopsy procedures are often unsuccessful in explicating the causes of SCD. “Gene” or “molecular autopsy” has a great potential for identifying unknown causes of death. The aim of our study was to design a methodology of molecular analysis for investigating old tissue samples paraffin-embedded, collected from subjects with SCD. For molecular analysis we selected a Real Time PCR method with Taqman probes, the SCN5A gene which can be mutated in several channelopathies – Brugada syndrome, LQT, FAF and a frequent mutation of SCN5A gene – E1784K. 51 samples were investigated and the genotype was determined for 47 subjects. By this study we showed that the molecular analyze of genomic DNA extracted from formalin-fixed and paraffin-embedded tissues by Real Time with TaqMan probes method is an efficient and suitable approach for samples with old and fragmented DNA molecules, which can be used for the successful identification of normal alleles or specific pathogenic mutations. By molecular dissection, old cases with no identified cause of death can be deciphered and the positive molecular diagnosis will provide the basis for genetic counseling and treating surviving family members.
Keywords:	sudden cardiac death, SCN5A gene, molecular autopsy, E1784K mutation
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*Correspondence:	Liviu A. Tămaş, ,,Victor Babeş” University of Medicine and Pharmacy from Timişoara, Faculty of Medicine, Biochemistry and Pharmacology Department, Eftimie Murgu Nr. 2, 300041, Timişoara, Romania; email: tliviu33@yahoo.com

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