Sanyal Jaya, Sarkar Biswanath, Banerjee Tapas Kumar, Mukherjee Subhash Chandra, Ray Bidhan Chandra, Raghavendra Rao V
Anthropological Survey of India, Kolkata, India.
Neurol Res. 2011 May;33(4):349-53. doi: 10.1179/016164110X12767786356679.
Mutations in the DJ-1 gene have been described in autosomal recessive Parkinson's disease (PD) of European ancestry, Ashkenazi Jews, and Afro-Caribbean patients. Up to date, there is a lack of information about the prevalence of DJ-1 mutations among Indian PD patients.
In this study, we examined for DJ-1 mutations in Eastern Indian PD patients. Exons (no. 2-7) and intron boundaries of the DJ-1 gene were screened in 300 individuals (PD, 150; controls, 150) by direct sequencing.
A total of six intronic variants (IVS4+30T>G, IVS4+45G>A, IVS4+46G>A, IVS4-98G>A, IVS5+31G>A and IVS5+69G>C) were detected including one novel intronic change (IVS5+69G>C). Clinical features of the two patients exhibiting IVS5+69G>C (novel change) were compared and both were found to have early onset PD. IVS4+30T>G, IVS4+45G>A, and IVS4+46G>A were found to be present equally both in the patient and control cohorts. We did not find any DJ-1 mutations in our study.
Our results suggest that, unlike Parkin, pathogenic DJ-1 mutations seem to be restricted in certain populations and are unlikely to be of clinical importance in the eastern part of India.
DJ-1基因突变已在欧洲血统、阿什肯纳兹犹太人及非裔加勒比患者的常染色体隐性帕金森病（PD）中被描述。目前，关于印度PD患者中DJ-1基因突变的患病率缺乏相关信息。
在本研究中，我们检测了印度东部PD患者的DJ-1基因突变情况。通过直接测序对300名个体（150例PD患者，150例对照）的DJ-1基因外显子（第2至7号）及内含子边界进行筛查。
共检测到6个内含子变异（IVS4+30T>G、IVS4+45G>A、IVS4+46G>A、IVS4-98G>A、IVS5+31G>A和IVS5+69G>C），其中包括1个新的内含子改变（IVS5+69G>C）。对两名表现出IVS5+69G>C（新改变）的患者的临床特征进行比较，发现二者均为早发性PD。IVS4+30T>G、IVS4+45G>A和IVS4+46G>A在患者组和对照组中的分布相同。在我们的研究中未发现任何DJ-1基因突变。
我们的结果表明，与帕金蛋白不同，致病性DJ-1基因突变似乎局限于某些人群，在印度东部不太可能具有临床意义。
