CAJ | 학술논문

目的检测钠离子通道SCN9A基因第15、18、26外显子的变异,并分析其与帕金森病疼痛的相关性.方法收集2008年3月至2011年1月就诊的原发性帕金森病(primary Parkinson's disease,PD)患者101例、中老年健康志愿者104名,用PCR及直接测序法检测SCN9A基因上述外显子的变异.100例PD患者接受了简化McGill疼痛量表评估.统计SCN9A基因变异位点的基因型和等位基因频率,并分析其与帕金森病疼痛的相关性.结果在101例PD患者中,100例获得了疼痛资料,57％伴有疼痛,其中男性占43.86％,女性占56.14％.按Chaudhuri分类,表现为骨骼肌疼痛者占10.52％,根性痛者占10.52％,肌张力障碍痛者占54.38％,不能静坐或坐立不安导致的疼痛者占14.04％,肌张力障碍痛加根性疼痛者占5.26％,骨骼肌疼痛加头痛者占1.75％,关节痛者占3.50％.检测出2种SCN9A基因的错义突变:2794A/C(0.941/0.059) (rs12478318) (M932L)和3448C/T(0.988/0.012)(rs6746030)(R1150W).PD伴疼痛组2794A/C野生型频率较高,但无统计学意义.3448C/T杂合型变异共5例,仅见于PD伴疼痛患者中,未发现纯合型变异.结论 PD患者疼痛患病率高于文献报道,男女比例相近,其中肌张力障碍性疼痛占多数.SCN9A基因的3448C/T错义突变可能与帕金森病疼痛的发病有关.
목적 검측납리자통도SCN9A기인제15、18、26외현자적변이,병분석기여파금삼병동통적상관성.방법 수집2008년3월지2011년1월취진적원발성파금삼병(primary Parkinson's disease,PD)환자101례、중노년건강지원자104명,용PCR급직접측서법검측SCN9A기인상술외현자적변이.100례PD환자접수료간화McGill동통량표평고.통계SCN9A기인변이위점적기인형화등위기인빈솔,병분석기여파금삼병동통적상관성.결과 재101례PD환자중,100례획득료동통자료,57％반유동통,기중남성점43.86％,녀성점56.14％.안Chaudhuri분류,표현위골격기동통자점10.52％,근성통자점10.52％,기장력장애통자점54.38％,불능정좌혹좌립불안도치적동통자점14.04％,기장력장애통가근성동통자점5.26％,골격기동통가두통자점1.75％,관절통자점3.50％.검측출2충SCN9A기인적착의돌변:2794A/C(0.941/0.059) (rs12478318) (M932L)화3448C/T(0.988/0.012)(rs6746030)(R1150W).PD반동통조2794A/C야생형빈솔교고,단무통계학의의.3448C/T잡합형변이공5례,부견우PD반동통환자중,미발현순합형변이.결론 PD환자동통환병솔고우문헌보도,남녀비례상근,기중기장력장애성동통점다수.SCN9A기인적3448C/T착의돌변가능여파금삼병동통적발병유관.
Objective To screening mutations of exons 15,18 and 26 of sodium channel Nav1.7 (SCN9A) gene,and to assess its association with pain related to Parkinsonism.Methods Respectively,101 patients with primary Parkinson's disease (PD) and 104 similar-aged volunteer without PD were recruited from March,2008 to January,2011.Mutations of above three exons in SCN9A gene was detected with PCR and direct sequencing.For 100 patients with Parkinsonism,the pain was scored with a McGill pain rating scale.Statistical analysis was performed with SPSS.Results The prevalence of pain in Parkinsonian was 57％.43.86％ patients with pain were males,and 56.14％ were females.Based on Chaudhuri criteria,the pain symptoms may be classified as:musculoskeletal pain (10.52 ％),radicular pain (10.52 ％),dyskinesis pain (54.38 ％),pain from akathisia and restlessness (14.04％),dyskinesis combined with radicular pain (5.26 ％),skeletal muscles pain and headache (1.75 ％),and arthralgia (3.50 ％).Two missense mutations were identified,which included 2794A/C (0.941/0.059) (rs12478318) (M932L) in exon 15 and 3448C/T (0.988/0.012) (rs6746030) (R1150W) in exon 18.Wild type of 2794 locus:A/A had higher prevalence in PD patients with pain,but there were no statistics difference.All of the 5 heterozygotes for 3448 (C/T) were found in Parkinsonian patients with pain.No homozygotes were found.Conclusion The prevalence of pain was higher in Parkinsonian patients than general population,and the proportion of males to females was similar.More patients have suffered dyskinesis pain.A 3448 (C/T) mutation of SCN9A gene may be related to pathogenesis of pain in Parkinsonism.