胸苷磷酸化酶基因突变不是线粒体神经胃肠性脑肌病（MNGIE）的主要病因。
Thymidine phosphorylase gene mutation is not a primary cause of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
作者信息
Kumagai Yukie, Sugiura Yoshihiro, Sugeno Hidekazu, Takebayashi Yuji, Takenoshita Seiichi, Yamamoto Teiji
机构信息
Department of Neurology, Fukushima Medical University, School of Medicine, Fukushima.
出版信息
Intern Med. 2006;45(7):443-6. doi: 10.2169/internalmedicine.45.1371. Epub 2006 May 1.
OBJECTIVE
The authors identified a patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), who completely fulfilled the clinical criteria with low thymidine phosphorylase (TP) activity. However, the same homozygotic S471L TP gene mutation was also found in her unaffected mother, but with normal TP activity. To elucidate the pathogenesis of MNGIE, we performed the analysis below.
METHODS
We analyzed the TP gene mutation in the proband and 145 unrelated individuals by direct sequence and restriction fragment length polymorphism (RFLP). TP activity was determined by the spectrophotometric method for each TP S471L genotype.
RESULTS
Among 145 normal persons, the S471L homozygote mutants were identified in 2.76% and their enzyme activity was normal.
CONCLUSION
TP gene mutation is not a primary cause of MNGIE, but with a mitochondrial deletion mutation, a single nucleotide polymorphism (SNP) of the TP gene may be crucial in the pathogenesis of MNGIE.
目的
作者鉴定出一名线粒体神经胃肠性脑肌病（MNGIE）患者，其完全符合低胸苷磷酸化酶（TP）活性的临床标准。然而，在其未受影响的母亲中也发现了相同的纯合S471L TP基因突变，但TP活性正常。为阐明MNGIE的发病机制，我们进行了以下分析。
方法
我们通过直接测序和限制性片段长度多态性（RFLP）分析了先证者和145名无关个体的TP基因突变。采用分光光度法测定每种TP S471L基因型的TP活性。
结果
在145名正常人中，S471L纯合突变体的检出率为2.76%，其酶活性正常。
结论
TP基因突变不是MNGIE的主要病因，但与线粒体缺失突变一起，TP基因的单核苷酸多态性（SNP）可能在MNGIE的发病机制中起关键作用。
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