Molecular pathology in forensic medicine-Introduction

Forensic Science International

Volumn 203, Issue 1-3, 2010, Pages 3-14

  Madea, Burkhard ^a   Saukko, Pekka ^b   Oliva, Antonio ^c   Musshoff, Frank ^a  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF TURKU   (Finland)

^c CATHOLIC UNIVERSITY   (Italy)

Author keywords

Cause of death; Evidential value; Gene expression; Molecular biology; Tissue identification

Indexed keywords

MESSENGER RNA; MICRORNA; MU 1 OPIATE RECEPTOR; MU OPIATE RECEPTOR; PETHIDINE; RNA; UNCLASSIFIED DRUG;

ACCURACY; ARTICLE; AUTOPSY; BODY FLUID; CAUSE OF DEATH; DNA DETERMINATION; DRUG FATALITY; DRUG MEGADOSE; FORENSIC IDENTIFICATION; FORENSIC MEDICINE; FORENSIC PATHOLOGY; GENE EXPRESSION PROFILING; GENE MUTATION; HOMICIDE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; IMMUNOHISTOCHEMISTRY; INFECTION; INTOXICATION; MOLECULAR BIOLOGY; MUTATIONAL ANALYSIS; PAIN; PATERNITY TEST; PHARMACOGENETICS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA DEGRADATION; SENSITIVITY AND SPECIFICITY; STAB WOUND; SUDDEN DEATH; SUDDEN INFANT DEATH SYNDROME; SURVIVAL TIME; TOXICOGENETICS; VALIDITY; WOUND;

EID: 78649331138     PISSN: 03790738     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.forsciint.2010.07.017     Document Type: Article

References (76)

1. Ackermann M.J., Tester D.J., Porter C.J., Edwards W.D. Molecular diagnosis of the inherited Long-QT syndrome in a woman who died after near-drowning. N. Engl. J. Med. 1999, 341:1121-1125.
2. Baasner A., Dettmeyer R., Graebe M., Rissland J., Madea B. PCR-based diagnosis of enterovirus and parvovirus B19 in paraffin-embedded heart tissue of children with suspected sudden infant death syndrome (SIDS). Lab. Invest. 2003, 83:1451-1455.
3. Basso C., Calabrese F., Corrado D., Thiene G. Postmortem diagnosis in sudden cardiac death victims: macroscopic, microscopic and molecular findings. Cardiovasc. Res. 2001, 50:290-300.
4. Basso C., Burke M., Fornes P., et al. Guidelines for autopsy investigation of sudden cardiac death. Virchows Arch. 2008, 452:11-18.
5. Bauer M., Patzelt D. Evaluation of mRNA markers for the identification of menstrual blood. J. Forensic Sci. 2002, 47:1278-1283.
6. Bauer M., Thalheimer A., Patzelt D. Paternity testing after pregnancy termination using laser microdissection of chorionic villi. Int. J. Legal Med. 2002, 116:39-42.
7. Bauer M., Patzelt D. Protamine mRNA as molecular marker for spermatozoa in forensic stains. Int. J. Legal Med. 2003, 117:175-179.
8. Bauer M., Polzin S., Patzelt D. Quantification of RNA degradation by semi-quantitative duplex and competitive RT-PCR: a possible indicator of the age of bloodstains?. Forensic Sci. Int. 2003, 138:94-103.
9. Bauer M., Polzin S., Gramlich I., Patzelt D. Quantification of mRNA degradation as possible indicator of postmortem interval-a pilot study. Leg. Med. 2003, 5:220-227.
10. Bauer M. RNA in forensic science. Forensic Sci. Int. Genet. 2007, 1:69-74.
11. Becker J., Schmidt P., Mußhoff F., Fitzenreiter M., Madea B. MOR1 receptor mRNA expression in human brains of drug related fatalities-a real-time PCR quantification. Forensic Sci. Int. 2004, 140:13-20.
12. Behr E.R., Dalageorgou C., Christiansen M., Syrris P., Hughes S., Tome Esteban M.T., Rowland E., Jeffery S., McKenna W.J. Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur. Heart J. 2008, 29:1670-1680.
13. Blakey G., Farkass D. General approach to molecular pathology. Basic Concepts of Molecular Pathology. Molecular Pathology Library 2009, vol. 2:61-68. Springer Science and Business Media.
14. Bríon M., Allegue C., Gil R., Torres M., Santori M., Poster S., Madea B., Carracedo A. Involvement of hypertrophic cardiomyopathy genes in sudden infant death syndrome (SIDS). Forensic Sci. Int.: Genet. Suppl. Ser. 2009, 2:495-496.
15. Brugada R. Clinical Approach to Sudden Cardiac Death Syndrome 2010, Springer, London, Dordrecht, Heidelberg, New York.
16. Byard R., Krous F. Sudden Infant Death Syndrome: Problems, Progress and Possibilities 2001, Hodder Arnold, London.
17. Basic Concepts of Molecular Pathology. Molecular Pathology Library 2009, vol. 2. Springer Science and Business Media.
18. Calabrese F., Thiene G. Myocarditis and inflammatory cardiomyopathy: microbiological and molecular biological aspects. Cardiovasc. Res. 2003, 60:11-25.
19. Carturan E., Tester D.J., Brost B.C., Basso C., Thiene G., Ackerman M.J. Postmortem genetic testing for conventional autopsy-negative sudden unexplained death. Am. J. Clin. Pathol. 2008, 129:391-397.
20. Chugh S.S., Senashova O., Watts A., Tran P.T., Zhou Z., Gong Q., Titus J.L., Hayflick S.J. Postmortem molecular screening in unexplained sudden death. J. Am. Coll. Cardiol. 2004, 43:1625-1629.
21. Corrado D., Basso C., Thiene G. Sudden cardiac death in young people with apparently normal heart. Cardiovasc. Res. 2001, 50:399-408.
22. Th. Daldrup, Toxikologische Aspekte der Sterbehilfe-die Problematik der Sterbehilfe aus forensisch-toxikologischer Sicht, in: F. Pragst, R. Aderjan (Hrsg.), GTFCh-Symposium Toxikologische Aspekte der Sterbehilfe, Verlag Dr. Dieter Helm, Heppenheim, 2001, pp. 5-12.
23. R. Dettmeyer, F. Mußhoff, B. Madea, Rechtsmedizinische und juristische Aspekte der Palliativmedizin, in: F. Pragst, R. Aderjan (Hrsg.), GTFCh-Symposium Toxikologische Aspekte der Sterbehilfe, Verlag Dr. Dieter Helm, Heppenheim, 2001, pp. 44-51.
24. Dettmeyer R., Sperhake J.P., Müller J., Madea B. Cytomegalovirus induced pneumonia and myocarditis in three cases of suspected sudden infant death syndrome (SIDS): diagnosis by immunohistochemical techniques and molecular pathological methods. Forensic Sci. Int. 2007, 174:229-233.
25. He Y.J., Brockmöller J., Schmidt H., Roots I., Kirchheiner J. CYP2D6 ultrarapid metabolism and morphine/codeine ratios in blood: was it codeine or heroin?. J. Anal. Toxicol. 2008, 32:78-182.
26. Holmgren P., Ahlner J. Pharmacogenomics for forensic toxicology: Swedish experience. Pharmacogenomics and Proteomics. Enabling the Practice of Personalized Medicine 2006, 295-300. AACC Press. S.H.Y. Wong, M.W. Linder, R. Valdes (Eds.).
27. Hund J.L., Dacic S. Applications in anatomic pathology. Basic Concepts of Molecular Pathology. Molecular Pathology Library 2009, vol. 2:69-72. Springer Science and Business Media.
28. Ikematsu K., Tsuda R., Nakasono I. Gene response of mouse skin to pressure injury in the neck region. Leg. Med. 2006, 8:128-131.
29. Ikematsu K., Tsuda R., Tsuruya S., Nakasono I. Identification of novel genes expressed in hypoxic brain condition by fluorescence differential display. Forensic Sci. Int. 2007, 169:168-172.
30. Ikematsu K., Takahashi H., Kondo T., Tsuda R., Nakasono I. Temporal expression of immediate early gene mRNA during the supravital reaction in mouse brain and lung after mechanical asphyxiation. Forensic Sci. Int. 2008, 179:152-156.
31. Ingles J., Semsarian C. Sudden cardiac death in the young: a clinical genetic approach. Intern. Med. J. 2007, 37:32-37.
32. Ishida K., Zhu B.-L., Maeda H. Novel approach to quantitative reverse transcription PCR assay of mRNA component in autopsy material using the TaqMan fluorogenic detection system: dynamics of pulmonary surfactant apoprotein A. Forensic Sci. Int. 2000, 113:127-131.
33. Ishida K., Zhu B.-L., Maeda H. A quantitative RT-PCR assay of surfactant-associated protein A1 and A 2 mRNA transcripts as a diagnostic tool for acute asphyxial death. Leg. Med. 2002, 4:7-12.
34. Jannetto P.J., Wong S.H., Gock S.B., Laleli-Sahin E., SChur B.C., Jentzen J.M. Pharmacogenomics as molecular autopsy for postmortem forensic toxicology: genotyping cytochrome P450 2D6 for oxycodone cases. J. Anal. Toxicol. 2002, 26:438-447.
35. Jin M., Gock S.B., Jannetto P.J., Jentzen J.M., Wong S.H. Pharmacogenomics as molecular autopsy for forensic toxicology: genotyping cytochrome 450 3A4*1B and 3A5*3 for 25 fentanyl cases. J. Anal. Toxicol. 2005, 29:590-598.
36. Junge A., Dettmeyer R., Madea B. Identification of biological samples in a case of contamination of a cytological slide preparation. J. Forensic Sci. 2008, 53(3):739-741.
37. Junge A., Steevens M., Madea B. Successful DNA typing of an urine sample in a doping control case using human mitochondrial DNA analysis. J. Forensic Sci. 2001, 47:5-13.
38. Karch S.B. Changing times: DNA resequencing and the " nearly normal autopsy" J. Forensic Legal Med. 2007, 14:389-397.
39. Kauferstein S., Kiehne N., Neumann T., Pitschner H.F., Bratzke H. Plötzlicher Herztod bei jungen Menschen durch kardiale Gendefekte. Dtsch. Ärztebl. 2009, 106(4):41-47.
40. Koren G., Cairns J., Chitayat D., Gaedigk A., Leeder S.J. Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother. Lancet 2006, 368:704.
41. Koski A., Ojanperä I., Sistonen J., Vuori E., Sajantila A. A fatal doxepin poisoning associated with a defective CYP2D6 genotype. Am. J. Forensic Med. Pathol. 2007, 28:259-261.
42. Koski A., Sistonen J., Ojanperä I., Vuori E., Sajantila A. CYP2D6 and CYP2C19 genotypes and amitriptyline metabolite ratios in a series of medicolegal autopsies. Forensic Sci. Int. 2006, 158:177-183.
43. Krous H.F., Ferandos C., Masoumi H., Arnold J., Haas E.A., Stanley C., Grossfeld P.D. Myocardial inflammation, cellular death, and viral detection in sudden infant death caused by SIDS, suffocation or myocarditis. Pediatr. Res. 2009, 66(1):17-21.
44. Kytö V., Saraste A., Saukko P., Henn V., Pulkki K., Vuorinen T., Voipio-Pulkki L.-M. Apoptotic cardiomyocyte death in fatal myocarditis. Am. J. Cardiol. 2004, 94:746-750.
45. Kytö V., Vuorinen T., Saukko P., Lautenschlager I., Lignitz E., Saraste A., Voipio-Pulkki L.-M. Cytomegalovirus infection of the heart is common in patients with fatal myocarditis. Clin. Infect. Dis. 2005, 40:683-688.
46. Kytö V., Saukko P., Lignitz E., Schwesinger G., Henn V., Saraste A., Voipio-Pulkki L.-M. Diagnosis and presentation of fatal myocarditis. Hum. Pathol. 2005, 36:1003-1007.
47. K.A. Lehmann, Kinetik und Dynamik von Opioiden bei der Schmerzbehandlung, in: F. Pragst, R. Aderjan (Hrsg.), GTFCh-Symposium Toxikologische Aspekte der Sterbehilfe, Verlag Dr. Dieter Helm, Heppenheim, 2001, pp. 29-35.
48. D.G.B. Leonard, Molecular Pathology in Clinical Practice: Genetics, Springer, London, Dordrecht, Heidelberg, New York, 2009.
49. Levo A., Koski A., Ojanperä I., Vuori E., Sajantila A. Post-mortem SNP analysis of CYP2D6 gene reveals correlation between genotype and opioid drug (tramadol) metabolite ratios in blood. Forensic Sci. Int. 2003, 135:9-15.
50. Madea B. Importance of supravitality in forensic medicine. Forensic Sci. Int. 1994, 69:221-241.
51. Madea B. Die Ärztliche Leichenschau-Rechtsgrundlagen, praktische Durchführung, Problemlösungen 2006, Springer, Berlin, Heidelberg, New York. 2 Auflage.
52. Madea B. Sudden death, especially in infancy-improvement of diagnosis by biochemistry, immunohistochemistry and molecular pathology. Leg. Med. 2009, 11:S36-S42.
53. B. Madea, J. Drexler, Virusätiologie des sudden infant death syndrome, in: G. Darai, M. Handermann, H.G. Sonntag, C.A. Tidona, L. Zöller (Hrsg.), Lexikon der Infektionskrankheiten des Menschen-Erreger, Symptome, Diagnose, Therapie und Prophylaxe, 4 Auflage, Springer-Verlag, Berlin, Heidelberg, New York, in press.
54. Madea B., Grellner W. Vitality and supravitality in forensic medicine. The Wound Healing Process-Forensic Medical Aspects. Research in Forensic Medicine 1996, vol. 13:259-282. Schmidt-Römhild Lübeck.
55. Musshoff F., Madea B., Stüber F., Stamer U. Plasma levels of tramadol and o-desmethyltramadol-enantiomers in patients with different CYP2D6 genotypes. GTFCh Symposium 2007, Aktuelle Beiträge zur forensischen und klinischen Toxikologie. Fahreignung-K.-o.-Mittel-Toxikokinetic-Analytische Methoden 2008, 156-161. F. Pragst, R. Aderjan (Eds.).
56. Oliva A., Brugada R., D'Aloja E., Boschi I., Partemi S., Brugrada J., Pascali V.L. State of the art in forensic investigation of sudden cardiac death (SCD). Am. J. Forensic Med. Pathol. 2010, (Epub ahead of print).
57. Oliva A., Pascali V. Sudden cardiac death in forensic pathology. Clinical Approach to Sudden Cardiac Death Syndrome 2010, 91-110. Springer, London, Dordrecht, Heidelberg, New York. R. Brugada (Ed.).
58. Reibe S., Schmidt J., Madea B. Molecular identification of forensically important blow fly species (dipthera: calliphoridae) from Germany. Parasitol. Res. 2009, (online 28 October 2009).
59. Robb L. Genetic counselling in cardiovascular conditions. Clinical Approach to Sudden Cardiac Death Syndrome 2010, 327-335. Springer, London, Dordrecht, Heidelberg, New York. R. Brugada (Ed.).
60. Rodríguez-Calvo M., Brion M., Aleegue C., Concheiro L., Carracedo A. Molecular genetics of sudden cardiac death. Forensic Sci. Int. 2008, 182:1-12.
61. Rognum T.O., Arnestad M., Bajanowski T., Banner J., Blair P., Borthne A., Byard R.W., Gaustad P., Gregersen M., Grøgaard J., Holter E., Isaksen C.V., Jørgensen J.V., Krous H.F., de Lange C., Moore I., Mørland J., Opdal S.H., Råsten-Almqvist P., Schlaud M., Sidebotham P., Skullerud K., Stoltenburg-Didinger G., Stray-Pedersen A., Sveum L., Vege Å. Consensus on diagnostic criteria for the exclusion of SIDS. Nord. Rettsmedisin 2003, 3/4:49-88.
62. Sajantila A., Lunetta P., Ojanperä I. Postmortem pharmacogenetics: toward molecular autopsies. Pharmacogenomics and Proteomics. Enabling the Practice of Personalized Medicine 2006, 301-310. AACC Press. S.H.Y. Wong, M.W. Linder, R. Valdes (Eds.).
63. Schmitt C., Madea B., Prinz M. Leichenzerstückelung mit sequenzieller Auffindung und Zuordnung der Leichenteile. Arch. Kriminol. 1995, 196:129-137.
64. Shojania K.G., Burton E.C., McDonald K.M., Goldman L. Changes in rates of autopsy detected diagnostic errors over time. A systematic review. JAMA 2003, 289:2849-2856.
65. M.J. Smith-Zagone, J.F. Pulliam, D.H. Farkass, Molecular pathology methods, in: D.G.B. Leonard (Ed.), Molecular Pathology in Clinical Practice: Genetics, Springer, London, Dordrecht, Heidelberg, New York, 2009, pp. 15-39.
66. Stamer U.M., Mußhoff F., Kobilay M., Madea B., Hoeft A., Stüber F. Concentrations of tramadol and o-desmethyltramadol-enantiomers in different CYP2D6 genotypes. Clin. Pharmacol. Ther. 2007, 82(1):41-47.
67. Tester D.J., Ackermann M.J. Sudden infant death syndrome: how significant are the cardiac channelopathies?. Cardiovasc. Res. 2005, 37:388-396.
68. Tester D.J., Ackermann M.J. The role of molecular autopsy in unexplained sudden cardiac death. Curr. Opin. Cardiol. 2006, 21:166-172.
69. Tester D.J., Ackermann M.J. Postmortem Long QT syndrome genetic testing for sudden unexplained death in the young. J. Am. Coll. Cardiol. 2007, 49(2):240-246.
70. Wong S.H.Y., Linder M.W., Valdes R. Pharmacogenomics and Proteomics. Enabling the Practice of Personalized Medicine 2006, AACC Press.
71. Wong S.H.Y., Gock S.B., Run-Zhang S., Jin M., Wagner M.A., Schur B.C., Jannetto P.J., Laleli-Sahin E., Bjerke J., Luwayhid N., Jentzen J.M. Pharmacogenomics as an aspect of molecular autopsy for forensic pathology/toxicology. Pharmacogenomics and Proteomics. Enabling the Practice of Personalized Medicine 2006, 311-318. AACC Press. S.H.Y. Wong, M.W. Linder, R. Valdes (Eds.).
72. Zhao D., Zhu B.-L., Ishikawa T., Li D.-R., Michiue T., Maeda H. Quantitative RT-PCR assays of hypoxia-inducible factor-1α, erythrompoietin and vascular endothelial growth factor mRNA transcripts in the kidneys with regard to the cause of death in medicolegal autopsy. Leg. Med. 2006, 8:258-263.
73. Zhao D., Ishikawa T., Quan L., Li D.-R., Michiue T., Yoshida C., Komatu A., Chen J.-H., Zhu B.-L., Maeda H. Tissue-specific differences in mRNA quantification of glucose transporter 1 and vascular endothelial growth factor with special regard to death investigations of fatal injuries. Forensic Sci. Int. 2008, 177:176-183.
74. Zhao D., Ishikawa T., Quan L., Michiue T., Zhu B.-L., Maeda H. Postmortem quantitative mRNA analyses of death investigation in forensic pathology: an overview and prospects. Leg. Med. 2009, (Suppl. 1):S43-S45.
75. Zhao D., Ishikawa T., Quan L., Michiue T., Yoshida C., Komatu A., Chen J.-H., Zhu B.-L., Maeda H. Postmortem mRNA quantification for investigation of infantile death: a comparison with adult cases. Leg. Med. 2009, (Suppl. 1):S286-S289.
76. Zhu B.-L., Tanaka S., Ishikawa T., Zhao D., Li D.-R., Michiue T., Quan L., Maeda H. Forensic pathological investigation of myocardial hypoxia-inducible factor-1α, erythropoietin and vascular endothelial growth factor in cardiac death. Leg. Med. 2008, 10:11-19.