A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle

FEBS Letters

Sherratt, H.Stanley A.³  Turnbull, Douglas M.²  Shepherd, Isobel.M.²  Derrick, Jerry P.⁴  Ramsay, Rona R.¹  Singh, Rajinder² 

[1] Molecular Biology Division, Veterans Administration Medical Center, San Francisco, CA 94121, USA;Department of Neurology Human Metabolism Research Centre, Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, England;Department of Pharmacological Sciences, Human Metabolism Research Centre, Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, England;Department of Biochemistry, University of Cambridge, Cambridge CB2 1QW, England

关键词: Carnitine palmitoyltransferase deficiency;    Carnitine palmitoyltransferase II;    Mitochondria;    (Skeletal muscle);    CPT;    CPT I;    CPT II;    carnitine palmitoyltransferase;    its overt and latent forms;   

DOI  :  10.1016/0014-5793(88)81044-5

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

A 20-year-old man was shown to have a deficiency of carnitine palmitoyltransferase (CPT) II in skeletal muscle. The evidence was: (i) there was no significant oxidation of [9,10-³H]palmitate or of [1-¹⁴C]palmitate in mitochondrial fractions from fresh skeletal muscle from the patient; (ii) all the CPT activity in a homogenate of fresh muscle from the patient was overt (CPT I) with no increase in activity after the inner membrane was disrupted; (iii) all the CPT activity in the patient's muscle was inhibited by malonyl-CoA; and (iv) an immunoreactive peptide of 67 kDa corresponding to CPT II, present in mitochondria from controls, was absent in those from the patient.

【 授权许可】

Unknown