Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF

Kaneoka, Hidetoshi; Uesugi, Noriko; Moriguchi, Ayaka; Hirose, Shinichi; Takayanagi, Masaki; Yamaguchi, Seiji; Shigematsu, Yosuke; Yasuno, Tetsuhiko; Sasatomi, Yoshie; Saito, Takao

doi:10.1053/j.ajkd.2004.12.006

Cited by 22 publications

(24 citation statements)

References 23 publications

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“…These data suggested that VCAM-1 expression induced by myoglobin might promote mononuclear cell recruitment into the interstitium, thus promoting tubulointerstitial inflammation. In line with our findings, inflammatory cell infiltration around tubular myoglobin casts and damaged tubules was reported in a patient with rhabdomyolysis and acute renal failure [31]. …”

Section: Discussionsupporting

confidence: 76%

Myoglobin Induces Vascular Cell Adhesion Molecule-1 Expression through c-Src Kinase-Activator Protein-1/Nuclear Factor-ĸB Pathways

Kim

Chang

Kim

et al. 2009

Nephron Exp Nephrol

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Background/Aims: It is not clear whether a sublethal dose of myoglobin induces some pathophysiological changes in tubular cells, potentially affecting tubular injury or tubular regeneration. We investigated the effect of a low dose of myoglobin on vascular cell adhesion molecule-1 (VCAM-1) expression and elucidated the underlying signaling pathways. We further examined the effect of losartan and simvastatin on myoglobin-induced VCAM-1 expression and the signaling pathways. Methods: Activation of nuclear factor (NF)-ĸB and activator protein (AP)-1 was assessed by electrophoretic mobility shift assay. Phosphorylation of protein kinases was examined by Western blot analysis. VCAM-1 mRNA and protein were measured by Northern blot analysis and cell ELISA. Results: A sublethal dose of myoglobin (100 µg/ml) induced VCAM-1 expression via activation of AP-1 and NF-ĸB, which was mediated through activation of c-Src kinase, followed by mitogen-activated protein kinases (p38, ERK 1/2, JNK-1) and the IĸB kinase – IĸB-α. Inhibitors of protein kinase C and tyrosine kinase, antioxidants and intracellular calcium chelator suppressed myoglobin-induced activation of c-Src kinase. Losartan and simvastatin suppressed myoglobin-induced VCAM-1 expression via inhibition of c-Src kinase. Conclusion: VCAM-1 expression via c-Src kinase-AP-1/NF-ĸB pathways might be one of the possible mechanisms linking myoglobin to tubular injury. Losartan and simvastatin might be beneficial in attenuating myoglobin-induced tubular injury.

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Section: Discussionsupporting

confidence: 76%

Myoglobin Induces Vascular Cell Adhesion Molecule-1 Expression through c-Src Kinase-Activator Protein-1/Nuclear Factor-ĸB Pathways

Kim

Chang

Kim

et al. 2009

Nephron Exp Nephrol

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“…Intronic primers for amplification from genomic DNA were designed for each exon within the three mutational hot-spot regions (exons 2-17, 39-46, 85-103). Mutations of the CPT II gene were analyzed according to the method of Kaneoka et al 7 The VLCAD gene contains 20 exons, and we designed primer pairs for all its exons. CYP2C19, a metabolic enzyme for phenobarbital, was analyzed according to the method of Morita et al 15 CYP2D6, a metabolic enzyme for promethazine and chlorpromazine, was analyzed using primer pairs specific to the CYP2D6 gene.…”

Section: Genetic Analysismentioning

confidence: 99%

“…6 CPT II deficiency is an important cause of recurrent rhabdomyolysis. 7 It has been reported that F383Y 8 was associated with rhabdomyolysis. VLCAD is an enzyme catalyzing the dehydrogenation of long-chain fatty acids in the first step of mitochondrial fatty acid oxidation.…”

Section: Introductionmentioning

confidence: 99%

An autopsy case of rhabdomyolysis related to vegetamin and genetic analysis of the rhabdomyolysis-associated genes

Matsusue

Hara

Kageura

et al. 2010

Journal of Forensic and Legal Medicine

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“…the VLCAD gene contains 20 exons and we designed primer pairs for all exons of the VLCAD gene. mutation in the CPT II gene was analyzed according to the method of Kaneoka et al 4 . cYP2D6 was analyzed all exons using designed primer pairs specific to the CYP2D6 gene.…”

Section: Genetic Analysismentioning

confidence: 99%

“…the carnitine palmitoyltransferase (CPT) enzyme system plays an important role in the transfer of long chain fatty acids from the cytosolic compartment to the mitochondrial matrix, where beta-oxidation occurs. cPt II deficiency is an important cause of recurrent rhabdomyolysis 4 . mA is metabolized in the liver by the cytochrome P450 (CYP)2D6 5 .…”

Section: Introductionmentioning

confidence: 99%

Genetic analysis of rhabdomyolysis-associated genes: an autopsy case of metham phetam ine-related hyperthermia and acidosis

Kubo¹,

Matsusue²,

Ishigami³

et al. 2010

Acta Medicinae Legalis Et Socialis

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A navegação consulta e descarregamento dos títulos inseridos nas Bibliotecas Digitais UC Digitalis, UC Pombalina e UC Impactum, pressupõem a aceitação plena e sem reservas dos Termos e Condições de Uso destas Bibliotecas Digitais, disponíveis em https://digitalis.uc.pt/pt-pt/termos.Conforme exposto nos referidos Termos e Condições de Uso, o descarregamento de títulos de acesso restrito requer uma licença válida de autorização devendo o utilizador aceder ao(s) documento(s) a partir de um endereço de IP da instituição detentora da supramencionada licença.Ao utilizador é apenas permitido o descarregamento para uso pessoal, pelo que o emprego do(s) título(s) descarregado(s) para outro fim, designadamente comercial, carece de autorização do respetivo autor ou editor da obra.Na medida em que todas as obras da UC Digitalis se encontram protegidas pelo Código do Direito de Autor e Direitos Conexos e demais legislação aplicável, toda a cópia, parcial ou total, deste documento, nos casos em que é legalmente admitida, deverá conter ou fazer-se acompanhar por este aviso. Abstract:In an autopsy case of methamphetamine (mA)-related hyperthermia and acidosis, we investigated the genetic background of hyperthermia and muscular hyperactivity in relation to rhabdomyolysis. We examined mutations in the ryanodine receptor1 (RYR1) gene, which is associated with malignant hyperthermia, the very long-chain acyl-CoA dehydrogenase (VLCAD) gene, which is associated with rhabdomyolysis, the carnitine palmitoyltransferase II (CPT II) gene, which is the most common cause of recurrent rhabdomyolysis in adults and the cytochrome P450 (CYP)2D6 gene which encodes mA-metabolizing enzyme. there were two homozygous and three heterozygous silent mutations in the three hot-spot regions in the RYR1 gene. there was no mutation in the VLCAD gene. In the CPT II gene, the subject was found to be homozygous for two amino acid substitutions, 352 Phe>cys and 368 Val>Ile in exon 4. In the CYP2D6 gene, the subject was heterozygous for 100 c>t, 1661 G>c and 4180 G>c causing 34 Pro>ser, a silent mutation and 486 ser>thr, respectively, in the CYP2D6*10A allele.

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Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF

Cited by 22 publications

References 23 publications

Myoglobin Induces Vascular Cell Adhesion Molecule-1 Expression through c-Src Kinase-Activator Protein-1/Nuclear Factor-ĸB Pathways

Myoglobin Induces Vascular Cell Adhesion Molecule-1 Expression through c-Src Kinase-Activator Protein-1/Nuclear Factor-ĸB Pathways

An autopsy case of rhabdomyolysis related to vegetamin and genetic analysis of the rhabdomyolysis-associated genes

Genetic analysis of rhabdomyolysis-associated genes: an autopsy case of metham phetam ine-related hyperthermia and acidosis

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