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Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.
Divisione di Biochimica e Genetica, Istituto Nazionale Neurologico Carlo Besta, Milan, Italy.
Carnitine palmitoyltransferase (CPT) II deficiency is the most common inherited disorder of lipid metabolism affecting skeletal muscle. We have identified a missense mutation (Ser113Leu) in one patient with the classical muscular symptomatology. Transfection experiments in COS cells demonstrate that the mutation drastically depresses the catalytic activity of CPT II. The mutation results in normal synthesis but a markedly reduced steady-state level of the protein, indicating decreased stability of mutant CPT II. The Ser113Leu mutation is the most frequent cause of CPT II deficiency. The mutation can be detected easily by restriction analysis enabling molecular diagnosis of most patients and identification of heterozygous carriers.
PMID: 8358442 [PubMed - indexed for MEDLINE]
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Cited by 7 PubMed Central articles
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Population-specific gene expression in the plant pathogenic nematode Heterodera glycines exists prior to infection and during the onset of a resistant or susceptible reaction in the roots of the Glycine max genotype Peking.
Klink VP, Hosseini P, MacDonald MH, Alkharouf NW, Matthews BF.
BMC Genomics. 2009 Mar 16; 10:111. Epub 2009 Mar 16.
[BMC Genomics. 2009]
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Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, et al.
Am J Hum Genet. 1999 Feb; 64(2):479-94.
[Am J Hum Genet. 1999]
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Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy.
Schaefer J, Jackson S, Taroni F, Swift P, Turnbull DM.
J Neurol Neurosurg Psychiatry. 1997 Feb; 62(2):169-76.
[J Neurol Neurosurg Psychiatry. 1997]
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