Molecular analysis of α-synuclein gene in Parkinson's disease in North Karnataka, India.

BACKGROUND: Parkinson's disease (PD) is a disabling neurological disorder characterized by progressive degeneration of dopaminergic neurons. Mutations analysis within the α-synuclein gene (SNCA) on chromosome 4 has been reported in the last decade. OBJECTIVE: To elucidate the possible role of SNCA gene in the pathogenesis of PD in Indian population specifically in north Karnataka. MATERIALS AND METHODS: The study subjects included 100 clinically diagnosed PD patients and 100 ethnically matched healthy controls. Isolated deoxyribonucleic acid (DNA) samples from both were subjected to exon-specific polymerase chain reaction (PCR) amplification and amplicons were subjected to capillary-based direct DNA sequencing. RESULT: No mutations were observed in SNCA gene of PD samples in comparison with control samples. CONCLUSION: These findings support the hypothesis that the SNCA gene mutations might be population specific and may not be playing role in causing PD in all the populations.

Prevalence and risk of leukemia in the multi-ethnic population of North Karnataka.

BACKGROUND: The aim of this study was to analyze the trends in the incidence rates of four major types of leukemia in the population of North Karnataka, which accounts for the 2.5% of the whole population of India. Due to the lack of any nationwide leukemia screening program, the majority of the people are not aware of the disease. Epidemiological study can play a vital role in understanding the occurrence and outcome of the disease. PATIENTS AND METHODS: Focusing on variables like age, sex, race, blood group and lifestyle habits, detailed reports of 417 males and 230 females (M:F ratio 1.8:1) were collected from different hospitals of North Karnataka and analyzed for their risk of leukemia. RESULTS: Compared to female patients, Hindu males were found to have greater risk of occurrence of leukemia (p=0.0333). The males of scheduled caste (SC) and Lingayat communities showed a high risk than other communities (p=0.000). The occurrence of AML showed a significant relationship with ABO blood groups (p=0.0090). The frequency of leukemia is quite high in Belgaum district when compared to others districts of North Karnataka and totally absent in Bidar district. The reasons need precise molecular and genetical studies of the population. CONCLUSIONS: The localized communities of Lingayat and SCs needs to be further studied to get a better understanding of the higher risk of occurrence of leukemia in males. Moreover, since the spectrum of cancer epidemiology seen in India is different from that in developed countries more emphasis should be placed on better development of regional and national registries.

Prevalence and distribution of high risk human papillomavirus (HPV) Types 16 and 18 in Carcinoma of cervix, saliva of patients with oral squamous cell carcinoma and in the general population in Karnataka, India.

BACKGROUND: In view of conducting HPV vaccination in India it is most important to understand the prevalence of HPV genotypes in this population, not only in squamous cell carcinoma of cervix and oral cavity but also in the general population. In this study we explored the prevalence and distribution of high-risk HPV types 16 and 18 in carcinoma of cervix, saliva of patients with oral squamous cell carcinoma and in general population in Karnataka. METHODS: Cervical cancer specimens after punch biopsy (n=60) were obtained from women attending Karnataka Institute of Medical Sciences and Karnataka Cancer Therapy and Research Institute, Hubli (KCTRI). Saliva rinse of (n=34) OSCC patients from KCTRI and (n=396) normal individuals from different regions of North Karnataka, were collected and PCR based high-risk HPV genotyping was carried out. RESULTS: Using consensus PCR primers it was observed that 96.7% patients were infected with HPV irrespective of specific type in cervical cancer. Among them, HPV 16 was observed in 89.7%, HPV 18 in 86.2% and both HPV 16 and 18 in 79.3% patients. In OSCC, 70.6% were positive for HPV, among which HPV 16 prevalence was observed in 45.8%, HPV 18 in 54.2%, and HPV 16 and 18 multiple infection in 4.18%. In general population, HPV prevalence was observed in 84.4%. Among them, HPV 16 was observed in 2.75% and HPV 18 in 22.0% patients. In general population, multiple infection with HPV 16 and 18 was not observed but 75.3% were found to be infected by HPV genotypes other than HPV 16 and 18. CONCLUSIONS: Our study reveals that multiple infection of HPV 16 and 18 is quite high in cervical cancer and in case of OSCC, it was in conformity with the other studies. In general population HPV 18 prevalence was observed to be high. With this, we can conclude that both HPV 16 and 18 vaccinations will reduce the burden of cervical cancer and OSCC in Karnataka.