Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase ii deficiency
| Autor: | Paul J. Isackson, Karl Y. Hostetler, Georgirene D. Vladutiu, Kristin A. Sutton |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
Male Mitochondrial Diseases Adolescent Physiology Sequence analysis Mutation Missense Biology Fatty acid beta-oxidation Lipid Metabolism Inborn Errors Loss of heterozygosity Cellular and Molecular Neuroscience Muscular Diseases Physiology (medical) medicine Humans Missense mutation Carnitine palmitoyltransferase II Child Muscle Skeletal Myopathy Gene Genetics Carnitine O-Palmitoyltransferase Acyl-CoA Dehydrogenase Long-Chain Sequence Analysis DNA Middle Aged medicine.disease Child Preschool Female Neurology (clinical) Carnitine palmitoyltransferase II deficiency medicine.symptom |
| Zdroj: | Muscle & Nerve. 47:224-229 |
| ISSN: | 0148-639X |
| Popis: | Introduction: Twenty-six patients with clinical symptoms of adult onset carnitine palmitoyltransferase II (CPTII) deficiency were examined. All patients had skeletal muscle CPTII enzyme activity levels indicative of heterozygosity for CPT2 mutations, however sequence analysis identified no pathogenic mutations within the CPT2 gene. Methods: Because the reaction product of CPTII is the substrate for very long-chain acyl-CoA dehydrogenase (VLCAD), we examined the ACADVL gene in these patients by sequence analysis. Results: Missense mutations within the ACADVL gene were identified in 3 of the patients. Conclusions: The locations of the altered amino acid residues within the crystal structure of VLCAD are on the surface of the molecule and may be involved in interactions with neighboring molecules. These findings support the importance of considering that mutations may be present in the ACADVL gene when a significant partial deficiency is found in CPTII activity, but no mutations in the CPT2 gene can be identified. Muscle Nerve, 2013 |
| Databáze: | OpenAIRE |
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