Prevalence of mitochondrial DNA mutations in sporadic patients with nonsyndromic sensorineural hearing loss
Prevalence of mitochondrial DNA mutations in sporadic patients with nonsyndromic sensorineural hearing loss
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DOI：
10.1016/j.bjorl.2015.06.006
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发表时间：
2016-08-01
影响因子：
2.2
通讯作者：
Yang, Bei-Bei
中科院分区：
文献类型：
--
作者：
Jiang, Hua;Chen, Jia;Yang, Bei-Bei
导读：一些线粒体DNA突变被报道与几个家族的非综合征性听力损失有关。然而，对这些突变在散发性非综合征感音神经性听力损失患者中的流行情况知之甚少。目的：我们研究的目的是调查这些线粒体DNA突变在这类人群中的发生率。方法：对178例散发性非综合征性感音神经性听力损失患者进行研究。从外周血样本中提取基因组DNA。我们采用SNaPshot (R)测序方法检测了5个线粒体DNA突变，包括12S rRNA基因中的A1555G和A827G， tRNA（Ser(UCN)）基因中的A7445G、7472insC和T7511C。同时，我们利用聚合酶链反应对产物进行测序，筛选线粒体DNA突变患者的GJB2基因突变。结果：我们未检测到12S rRNA基因中存在A1555G突变，tRNA（Ser(UCN)）基因中存在A7445G、7472insC、T7511C突变。然而，我们发现6例（3.37%）患者携带A827G纯合突变，其中1例还携带GJB2 235delC纯合突变。结论：我们在本研究中的发现表明，即使在散发性非综合征感音神经性听力损失患者中，线粒体DNA突变也可能导致临床表型。(C) 2015年巴西颈动脉美容协会。由爱思唯尔编辑有限公司出版。
Introduction: Several mitochondrial DNA mutations have been reported to be associated with nonsyndromic hearing loss in several families. However, little is known about the prevalence of these mutations in sporadic patients with nonsyndromic sensorineural hearing loss.Objective: The purpose of our study was to investigate the incidence of these mitochondrial DNA mutations in such population.Methods: A total of 178 sporadic patients with nonsyndromic sensorineural hearing loss were enrolled in this study. Genomic DNA was extracted from the peripheral blood sample. We employed the SNaPshot (R) sequencing method to detect five mitochondrial DNA mutations, including A1555G and A827G in 12S rRNA gene and A7445G, 7472insC, and T7511C in tRNA(Ser(UCN)) gene. Meanwhile, we used polymerase chain reaction and sequenced the products to screen GJB2 gene mutations in patients carrying mitochondrial DNA mutations.Results: We failed to detect the presence of A1555G mutation in 12S rRNA gene, and of A7445G, 7472insC, T7511C mutations in tRNA(Ser(UCN)) gene in our population. However, we found that 6 patients (3.37%) were carriers of a homozygous A827G mutation and one of them also carried homozygous GJB2 235delC mutation.Conclusion: Our findings in the present study indicate that even in sporadic patients with nonsyndromic sensorineural hearing loss, mitochondrial DNA mutations might also contribute to the clinical phenotype. (C) 2015 Associacao Brasileira de Otorrinolaringologia e Cirurgia Cervico-Facial. Published by Elsevier Editora Ltda.