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Genetic analysis of the rhabdomyolysis-associated genes in forensic autopsy cases of methamphetamine abusers.
- Source :
-
Legal medicine (Tokyo, Japan) [Leg Med (Tokyo)] 2011 Jan; Vol. 13 (1), pp. 7-11. Date of Electronic Publication: 2010 Oct 16. - Publication Year :
- 2011
-
Abstract
- Methamphetamine (MA) use sometimes causes rhabdomyolysis, which has been associated with mortality. We analyzed potential rhabdomyolysis-susceptibility genes from autopsy samples of 18 methamphetamine abusers. We examined mutations in the ryanodine receptor 1 (RYR 1), carnitine palmitoyltransferase II (CPT II), very long-chain acyl-CoA dehydrogenase (VLCAD), and cytochrome P450 (CYP) 2D6 genes. Different RYR1 mutations that caused amino acid substitutions ((612)Ala>Thr and (4295)Ala>Val) were identified in 2 cases. In the CPT II gene, there was a new mutation ((545)Glu>Ala) in 1 case and there were mutations that did not change activity in 17 cases. In the VLCAD gene, there were mutations that did not change activity in 6 cases. In the CYP2D6 gene, homozygosity for CYP2D6∗10, which is associated with significantly reduced metabolic activity, was found in 3 cases, while 2 cases carried a different previously unreported missense mutation ((344)Arg>Gln and (48)His>Tyr). RYR1 mutations and the new CPT II mutation identified in this study were not observed in a control group. Eighteen cases that were genetically analyzed were also investigated immunohistochemically to diagnose the possibility of rhabdomyolysis. However, there were no significant mutations that reduced enzyme activity in the suspected cases of rhabdomyolysis. These data suggested no obvious relationship between the genetic mutations observed in this study and rhabdomyolysis.<br /> (Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.)
- Subjects :
- Acyl-CoA Dehydrogenase, Long-Chain genetics
Adult
Autopsy
Carnitine O-Palmitoyltransferase genetics
Cytochrome P-450 CYP2D6 genetics
Female
Genetic Predisposition to Disease
Humans
Immunohistochemistry methods
Japan
Male
Methamphetamine blood
Methamphetamine urine
Middle Aged
Polymorphism, Genetic
Rhabdomyolysis enzymology
Ryanodine Receptor Calcium Release Channel genetics
Forensic Genetics
Methamphetamine metabolism
Rhabdomyolysis chemically induced
Rhabdomyolysis genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1873-4162
- Volume :
- 13
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Legal medicine (Tokyo, Japan)
- Publication Type :
- Academic Journal
- Accession number :
- 20952238
- Full Text :
- https://doi.org/10.1016/j.legalmed.2010.08.007