title: Genomic DNA organization of human mitochondrial very-long-chain acyl-CoA dehydrogenase and mutation analysis.
abstract: Very-long-chain acyl-CoA dehydrogenase (VLCAD) is a major enzyme catalyzing long-chain fatty acids in the first step of mitochondrial beta-oxidation system. Inborn error of this enzyme can cause sudden infant death syndrome and hypertrophic cardiomyopathy is present at a significantly high frequency. To investigate VLCAD deficiency at the genomic DNA level, we cloned the VLCAD gene and analyzed the structure. The gene is about 5.4 kb long and contains 20 exons. We performed mutation analysis in two patients, both having a 105 bp deletion encompassing bases 1078-1182 in cDNA. A point mutation (GT-->AT) at 5' splice site of intron 11 was identified in both patients. This mutation seems to cause skipping of exon 11 corresponding to the 105 bp deletion. This is the first documentation of aberrant splicing in the VLCAD gene.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: K O
authors.initials: KO
authors.lastname: Orii
authors.forename: T
authors.initials: T
authors.lastname: Aoyama
authors.forename: M
authors.initials: M
authors.lastname: Souri
authors.forename: K E
authors.initials: KE
authors.lastname: Orii
authors.forename: N
authors.initials: N
authors.lastname: Kondo
authors.forename: T
authors.initials: T
authors.lastname: Orii
authors.forename: T
authors.initials: T
authors.lastname: Hashimoto
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency* / Q000235:genetics*; D017398:Alternative Splicing; D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D005091:Exons; D005796:Genes; D006801:Humans; D007438:Introns; D008928:Mitochondria / Q000201:enzymology*; D017240:Mitochondrial Myopathies / Q000235:genetics*; D008969:Molecular Sequence Data
chemical_list: D017931:DNA Primers; D044942:Acyl-CoA Dehydrogenase, Long-Chain