疑似LHON患者mtDNA突变规律及临床研究

Research on mitochondrial DNA mutations and clinical feature of suspected leber hereditary optic neuropathy

目的:研究临床疑似Leber遗传性视神经病变(Leber's hereditary optic neuropathy,LHON)患者的mtDNA突变规律及临床表现。方法:对2006-01/2012-01就诊于邢台市眼科医院符合病例入选标准的175例患者,按是否有家族史分为对照组及观察组,对照组患者口服维生素B1片、甲钴胺片治疗,观察组患者加用注射用甲泼尼龙琥珀酸钠,对两组患者抽取静脉血,进行mtDNA 11778,3460,14484三个原发突变位点及相关突变热点进行检测,分析其发病年龄、突变率、突变位点、logMAR最佳矫正视力。结果:观察组:男78例,女34例,年龄8～42(平均23±4.5)岁,mtDNA突变阴性者59例(52.7%),mtDNA突变阳性者53例(47.3%),其中G11778A突变41例(36.6%),T14484C突变5例(4.5%),G3460A突变2例(1.8%),另外尚有G15927A突变1例,A15951G突变1例,G11696A突变1例,G11778A+G11696A突变1例,G11778A+G3316A突变1例。mtDNA突变阴性者平均logMAR视力为1.11±0.31。对照组:男46例,女17例,年龄7～44(平均18±6.5)岁,G11778突变53例(84.1%),T14484C突变8例(12.7%),G3460A突变2例(3.2%),平均logMAR视力为1.13±0.32。结论:疑似LHON患者发病年龄较LHON患者偏大,mtDNA突变G11778A占多数,存在多个mtDNA同时突变及其它mtDNA位点突变;对糖皮质激素治疗不敏感,最佳矫正logMAR视力在1.1左右。

AIM：To study the mtDNA mutation in patients with suspected Leber＇s hereditary optic neuropathy（LHON） regularity and clinical manifestations.METHODS：Totally 175 patients admitted from January 2006 to January 2012,according to whether had a family history or not,were divided into control group and observation group.Control group oral took vitamin B1 tablets,mecobalamin tablets;observation group oral took vitamin B1 tablets,mecobalamin tablets and combined with methylprednisolone injection.Both groups were draw veinal blood.mtDNA 11778,3460,14484 and other mutation hot spot were tested.The age,rate of mutation,mutation,and logMAR best-corrected visual acuity were analyzed.RESULTS：Observation group：male 78 cases,female 34 cases,maximum age of 42 years,minimum of 8 years,and average was 23±4.5 years.The mtDNA mutation negative was in 59 cases,mtDNA mutations were in 53 cases,G11778A in 41 cases,T14484C in 5 cases,G3460A in 2 cases,G15927A in 1 case,A15951G in 1 case,G11696A in 1 case,G11778A＋G11696A in 1 case,G11778A＋G3316A in 1 case.The mtDNA mutation negative average best-corrected visual acuity was 1.11±0.31logMAR.Control group：male 46 cases,female 17 cases,the maximum age of 44 years,minimum of 7 years,average were 18±6.5,G11778 mutation in 53（84.1%）,T14484C mutation in 8（12.7%）,G3460A mutation in 2（3.2%）,the average visual acuity was 1.13±0.32 logMAR.CONCLUSION：In patients with suspected LHON,age at onset of LHON patients was relatively large.The result showed mtDNA G11778A accounted for the majority of mutations,presence of multiple mtDNA mutation and other mtDNA mutation;it is not sensitive to glucocorticoid treatment,and best corrected visual acuity was 1.1 logMAR.