Analysis of dystrophin gene deletions by multiplex PCR in eastern India.

The most common genetic neuromuscular disease of childhood, Duchenne and Becker muscular dystrophy (DMD/BMD) is caused by deletion, duplication or point mutation of the dystrophin gene located at Xp 21.2. In the present study DNA from seventy unrelated patients clinically diagnosed as having DMD/BMD referred from different parts of West Bengal, a few other states and Bangladesh are analyzed using the multiplex polymerase chain reaction (m-PCR) to screen for exon deletions and its distribution within the dystrophin gene. Out of seventy patients forty six (63%) showed large intragenic deletion in the dystrophin gene. About 79% of these deletions are located in the hot spot region i.e, between exon 42 to 53. This is the first report of frequency and distribution of deletion in dystrophin gene in eastern Indian DMD/BMD population.

Arsenic groundwater contamination in Middle Ganga Plain, Bihar, India: a future danger?

The pandemic of arsenic poisoning due to contaminated groundwater in West Bengal, India, and all of Bangladesh has been thought to be limited to the Ganges Delta (the Lower Ganga Plain), despite early survey reports of arsenic contamination in groundwater in the Union Territory of Chandigarh and its surroundings in the northwestern Upper Ganga Plain and recent findings in the Terai area of Nepal. Anecdotal reports of arsenical skin lesions in villagers led us to evaluate arsenic exposure and sequelae in the Semria Ojha Patti village in the Middle Ganga Plain, Bihar, where tube wells replaced dug wells about 20 years ago. Analyses of the arsenic content of 206 tube wells (95% of the total) showed that 56.8% exceeded arsenic concentrations of 50 micro g/L, with 19.9% > 300 micro g/L, the concentration predicting overt arsenical skin lesions. On medical examination of a self-selected sample of 550 (390 adults and 160 children), 13% of the adults and 6.3% of the children had typical skin lesions, an unusually high involvement for children, except in extreme exposures combined with malnutrition. The urine, hair, and nail concentrations of arsenic correlated significantly (r = 0.72-0.77) with drinking water arsenic concentrations up to 1,654 micro g/L. On neurologic examination, arsenic-typical neuropathy was diagnosed in 63% of the adults, a prevalence previously seen only in severe, subacute exposures. We also observed an apparent increase in fetal loss and premature delivery in the women with the highest concentrations of arsenic in their drinking water. The possibility of contaminated groundwater at other sites in the Middle and Upper Ganga Plain merits investigation.

Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India.

To identify the genetic modifier(s) that might alter the age at onset in Huntington's disease (HD) we have analyzed variations in GluR6 kainate receptor (GluR6), CA150 gene, Delta2642 and polymorphic CCG repeat variation in huntingtin (htt) gene in 77 HD patients and normal individuals. In addition, variation in the RAI1 gene was analyzed in 30 spinocerebellar ataxia (SCA2) patients and normal individuals to show the possible influence on the age at onset. Multiple regression analysis indicated that variation in GluR6 and CCG repeat genotype might explain 6.2% and 3.1%, respectively, of the variability in the age at onset in HD. Similar analysis with SCA2 patients indicated that RAI1 might explain about 13% of the variability in the age at onset. Specific alleles in GluR6 and CA150 locus were only observed in HD patients.

Arsenic calamity in the Indian subcontinent What lessons have been learned?

Groundwater arsenic (As) contamination in West Bengal (WB, India) was first reported in December 1983, when 63 people from three villages of two districts were identified by health officials as suffering from As toxicity. As of October 2001, the authors from the School of Environmental Studies (SOES) have analyzed >105 000 water samples, >25 000 urine/hair/nail/skin-scale samples, screened approximately 86 000 people in WB. The results show that more than 6 million people in 2700 villages from nine affected districts (total population approximately 42 million) of 18 total districts are drinking water containing >/=50 mug l(-1) As and >300 000 people may have visible arsenical skin lesions. The As content of the physiological samples indicates that many more may be sub-clinically affected. Children in As-affected villages may be in special danger. In 1995, we had found three villages in two districts of Bangladesh where groundwater contained >/=50 mug l(-1) As. The present situation is that in 2000 villages in 50 out of total 64 districts of Bangladesh, groundwater contains As above 50 mug l(-1) and more than 25 million people are drinking water above >/=50 mug l(-1) As. After years of research in WB and Bangladesh, additional affected villages are being identified on virtually every new survey. The present research may still reflect only the tip of iceberg in identifying the extent of As contamination. Although the WB As problem became public almost 20 years ago, there are still few concrete plans, much less achievements, to solve the problem. Villagers are probably in worse condition than 20 years ago. Even now, many who are drinking As-contaminated water are not even aware of that fact and its consequences. 20 years ago when the WB government was first informed, it was a casual matter, without the realization of the magnitude this problem was to assume. At least up to 1994, one committee after another was formed but no solution was forthcoming. None of the expert reports has suggested solutions that involve awareness campaigns, education of the villagers and participation of the people. Initially, international aid agencies working in the subcontinent simply did not consider that As could be present in groundwater. Even now, while As in drinking water is being highlighted, there have been almost no studies on how additional As is introduced through the food chain, as large amounts of As are present in the agricultural irrigation water. Past mistakes, notably the ceaseless exploitation of groundwater for irrigation, continue unabated today; at this time, more groundwater is being withdrawn than ever before. No efforts have been made to adopt effective watershed management to harness the extensive surface water and rainwater resources of this region. Proper watershed management and participation by villagers are needed for the proper utilization of water resources and to combat the As calamity. As in groundwater may just be nature's initial warning about more dangerous toxins yet to come. What lessons have we really learned?