Oshima T, Ueda N, Ikeda K, Abe K, Takasaka T
Department of Otolaryngology, Tohoku University School of Medicine, Sendai, Japan.
Laryngoscope. 1996 Jan;106(1 Pt 1):43-8. doi: 10.1097/00005537-199601000-00009.
Mitochondrial DNA (mtDNA) mutation associated with sensorineural hearing loss (SNHL) has previously been described in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) and in aminoglycoside-induced deafness. The authors of this study report three cases of SNHL associated with mtDNA mutation (3243A-->G). They examined the clinical features of this type of SNHL by audiologic studies and examined the mtDNA mutation by the polymerase chain reaction technique. In the three cases described, the SNHL had an adult onset and was bilateral and symmetrical. All patients had adult-onset diabetes mellitus. Audiologic studies revealed that the SNHL in all patients derived from the cochlea rather than from retrocochlear sites. It is presumed that mtDNA mutation results in mitochondrial dysfunction in cochlear tissues (i.e., hair cells and stria vascularis) and in neurons of the auditory pathway. Genetic analysis of mtDNA offers new insight into the diagnosis and treatment of SNHL.
此前已在线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）以及氨基糖苷类药物所致耳聋中发现与感音神经性听力损失（SNHL）相关的线粒体DNA（mtDNA）突变。本研究的作者报告了3例与mtDNA突变（3243A→G）相关的SNHL病例。他们通过听力学研究检查了这类SNHL的临床特征，并通过聚合酶链反应技术检测了mtDNA突变。在所描述的3例病例中，SNHL为成人起病，双侧且对称。所有患者均患有成人发病型糖尿病。听力学研究显示，所有患者的SNHL均源于耳蜗而非蜗后部位。据推测，mtDNA突变导致耳蜗组织（即毛细胞和血管纹）以及听觉通路神经元中的线粒体功能障碍。mtDNA的基因分析为SNHL的诊断和治疗提供了新的见解。
