Piatto Vânia Belintani, Pereira Márcio Coimbra, da Silva Magali A O M, Maniglia José Victor
Medical School of São José do Rio Preto (FAMERP), Department of Otorhinolaryngology, São Paulo, Brazil.
Neurobiol Aging. 2009 Jul;30(7):1173-4. doi: 10.1016/j.neurobiolaging.2007.10.004. Epub 2007 Nov 26.
Presbyacusis is the most common cause of auditory dysfunction that is generally associated with aging in industrialized societies.
To assess the presence of the mitochondrial 4977-bp deletion in Brazilian patients with presbyacusis.
One hundred unrelated patients of both genders were clinically examined to exclude syndromic forms of deafness. Specific oligonucleotide primers were designed to amplify the cytochrome b gene and the 4977-bp deletion of the mtDNA using the polymerase chain reaction.
The mtDNA(4977) deletion was not identified in any of the samples analyzed. A region of the cytochrome b gene has been previously amplified and the presence of the mtDNA and the non-deleted mtDNA was confirmed in all of the samples.
These molecular findings disagree with reports describing the mtDNA(4977) deletion associated with aging, but do not discard the possibility of the existence of mutations in other genes in the patients and, highlight the importance of identifying the underlying genetic causes of presbyacusis, in the Brazilian population, to provide a better understanding of the internal ear diseases.
老年性聋是工业化社会中与衰老普遍相关的最常见听觉功能障碍原因。
评估巴西老年性聋患者中线粒体4977bp缺失的存在情况。
对100名无亲属关系的男女患者进行临床检查，以排除综合征性耳聋形式。设计特异性寡核苷酸引物，使用聚合酶链反应扩增细胞色素b基因和线粒体DNA的4977bp缺失。
在所分析的任何样本中均未鉴定出线粒体DNA（4977）缺失。先前已扩增细胞色素b基因的一个区域，并在所有样本中证实了线粒体DNA和未缺失的线粒体DNA的存在。
这些分子研究结果与描述与衰老相关的线粒体DNA（4977）缺失的报道不一致，但不排除患者其他基因存在突变的可能性，并强调在巴西人群中确定老年性聋潜在遗传原因的重要性，以便更好地了解内耳疾病。
