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首页> 外文期刊>BMC Medical Genetics >A novel MTTT mutation m.15933G?>?A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease
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A novel MTTT mutation m.15933G?>?A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

机译：疑似线粒体疾病患者线粒体DNA分析发现一种新的MTTT突变m.15933G？>？A

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Background Mitochondrial diseases present with variable multi-organ symptoms. Common disease-causing mutations in mitochondrial DNA (mtDNA) are regularly screened in diagnostic work-up, but novel mutations may remain unnoticed. Methods Patients ( N =?66) with a clinical suspicion of mitochondrial disease were screened for their mtDNA coding region using conformation sensitive gel electrophoresis and sequencing. Long-PCR was used to detect deletions followed by POLG1 sequencing in patients with multiple deletions. Results We discovered three novel mtDNA variants that included m.8743G?>?C, m.11322A?>?G and m.15933G?>?A. The novel MTTT variant m.15933G?>?A is suggested to be pathogenic. Analysis revealed also multiple mtDNA deletions in two patients and five nonsynonymous variants that were putatively pathogenic according to in-silico prediction algorithms. In addition, a rare haplogroup H associated m.7585_7586insT variant was discovered. Conclusions Among patients with a suspected mitochondrial disease, a novel MTTT variant m.15933G?>?A was discovered and is suggested to be pathogenic. In addition, several putatively pathogenic nonsynonymous variants and rare variants were found. These findings highlight the importance of coding region mtDNA screening among patients with clinical features suggesting a mitochondrial disease, but who lack the common mitochondrial disease mutations.
机译：背景线粒体疾病表现为多种器官症状。线粒体DNA（mtDNA）中常见的致病突变会在诊断工作中定期进行筛查，但新突变可能仍未引起注意。方法采用构象敏感的凝胶电泳和测序方法，对临床怀疑线粒体疾病的患者（N = 66）进行mtDNA编码区筛选。在有多个缺失的患者中，Long-PCR用于检测缺失，然后进行POLG1测序。结果我们发现了三种新颖的mtDNA变体，包括m.8743G→> C，m.11322A→> G和m.15933G→> A。新的MTTT变体m.15933G→＞ A被认为是致病的。分析还显示，根据计算机内预测算法，两名患者中有多个mtDNA缺失和五个非同义变体，这些变体被认为具有致病性。此外，发现了罕见的单倍群H相关的m.7585_7586insT变体。结论在疑似线粒体疾病的患者中，发现了新的MTTT变体m.15933G？>？A，并被认为具有致病性。另外，发现了几种推定的致病性非同义变体和稀有变体。这些发现凸显了在具有提示线粒体疾病但缺乏常见线粒体疾病突变的临床特征的患者中进行mtDNA编码区筛选的重要性。

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