IDENTIFICATION OF A COMMON MUTATION IN THE CARNITINE PALMITOYLTRANSFERASE II GENE IN FAMILIAL RECURRENT MYOGLOBINURIA PATIENTS
IDENTIFICATION OF A COMMON MUTATION IN THE CARNITINE PALMITOYLTRANSFERASE II GENE IN FAMILIAL RECURRENT MYOGLOBINURIA PATIENTS
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DOI：
10.1038/ng0793-314
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发表时间：
1993-07-01
期刊：
影响因子：
30.8
通讯作者：
DIDONATO, S
中科院分区：
文献类型：
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作者：
TARONI, F;VERDERIO, E;DIDONATO, S
肉碱棕榈酰转移酶 (CPT) II 缺乏症是影响骨骼肌的最常见的脂质代谢遗传性疾病。我们在一名具有经典肌肉症状的患者中发现了错义突变 (Ser113Leu)。 COS 细胞的转染实验表明，该突变极大地抑制了 CPT II 的催化活性。该突变导致合成正常，但蛋白质的稳态水平显着降低，表明突变体 CPT II 的稳定性降低。 Ser113Leu 突变是 CPT II 缺陷的最常见原因。通过限制性分析可以轻松检测到突变，从而能够对大多数患者进行分子诊断并识别杂合携带者。
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.