High mitochondrial DNA T8993G mutation (>90%) without typical features of Leigh's and NARP syndromes
High mitochondrial DNA T8993G mutation (>90%) without typical features of Leigh's and NARP syndromes
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DOI：
10.1177/088307380101600716
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发表时间：
2001-07-01
影响因子：
1.9
通讯作者：
Bartholomew, D
中科院分区：
文献类型：
--
作者：
Tsao, CY;Mendell, JR;Bartholomew, D
神经病、共济失调和视网膜色素变性(NARP)综合征和母系遗传性Leigh综合征与线粒体三磷酸腺苷酶6基因的T8993G点突变有关。典型的NARP综合征的特征是发育迟缓、癫痫、痴呆、视网膜色素变性、共济失调、感觉神经病和近端无力。通常，线粒体DNA突变的百分比与临床严重程度有关，当线粒体DNA突变为90%时，常见于Leigh综合征。我们现在报告一个线粒体DNAT8993G突变的家系，在8个在世成员中，5个具有突变的线粒体DNA>；90%，一个具有20%突变的线粒体DNA。然而，它们的临床特征包括癫痫发作、行为问题、学习障碍、智力低下、感觉神经性耳聋、小脑性共济失调和近端肌肉无力的各种组合。所有8名在世成员中都没有发现视网膜色素变性，其中包括一名56岁的祖母。仅1例女性亲属在22岁时死于神经病理检查确诊为Leigh综合征，死于意外时，高线粒体DNAT8993G突变并不总是与Leigh和NARP综合征的典型特征相关。
Neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome and maternally inherited Leigh's syndrome have been associated with T8993G point mutations in the mitochondrial adenosine triphosphatase 6 gene. Typically, NARP syndrome is characterized by developmental delay, seizures, dementia, retinitis pigmentosa, ataxia, sensory neuropathy, and proximal weakness. Usually, there is a correlation between the percentage of mutated mitochondrial DNA and clinical severity, and when mutated mitochondrial DNA is > 90%, it is often seen with Leigh's syndrome. We now report a family with mitochondrial DNA T8993G mutation in eight living members, five with mutant mitochondrial DNA > 90% and one with 20% mutant mitochondrial DNA. However, their clinical features include variable combinations of seizures, behavior problems, learning disability, mental retardation, sensorineural deafness, cerebellar ataxia, and proximal muscle weakness. No retinitis pigmentosa was found in ail eight living members, including a 56-year-old grandmother. Only one dead female relative was diagnosed with Leigh's syndrome on the neuropathologic examination at age 22 years, when she died of an accident, High mitochondrial DNA T8993G mutation is not always associated with typical features of Leigh's and NARP syndromes.