Role of PON1 L55M Gene Polymorphism in Parkinson's Disease among North Indian Population.

BACKGROUND AND OBJECTIVES: The role of various genetic markers including alpha synuclein, Parkin, etc., is known in the pathogenesis of Parkinson's disease (PD). Novel genetic markers including paraoxonase 1 (PON1) have also been linked to PD pathogenesis in recent studies. The PON1 L55M allele carriers may have defective clearance of environmental toxins and may result in increased susceptibility to PD. Hence, we studied the role of PON1 L55M polymorphism in PD among a North Indian population. MATERIALS AND METHOD: Seventy-four PD patients and 74 age- and sex-matched controls were recruited in this hospital-based case-control study. Baseline characteristics were recorded using structured questionnaire. DNA was extracted from 3-4 ml of venous blood, followed by PCR and restriction digestion. PON1 L55M genotypes were visualized as bands: LL (177 bp), LM (177, 140 bp) and MM (140,44 bp) on 3% agarose gel. Mann-Whitney U test and Chi-squared test were used for comparing two groups of skewed and categorical variables, respectively. Measures of strength of association were calculated by binary regression analysis. P value < 0.05 was considered as significant. RESULTS: Parkinson's disease patients had significantly higher exposure to pesticides (12.2%; P (organophosphate exposure) < 0.001) and well water drinking (28.4%; P = 0.006) compared to controls. Frequency distribution of LL, LM, MM genotypes was 67.5% (50/74), 28.4% (21/74), and 4.1% (3/74), respectively, for cases and 72.6% (54/74), 26% (19/74) and 1.4% (1/74), respectively, for controls. PON1 L55M genotype distribution between Parkinson's disease cases and controls was not significant (P = 0.53). PON1 L55M polymorphism was not associated with PD after adjusting for confounders by binary regression analysis. CONCLUSION: There was no significant association between PON1 L55M polymorphism and PD. Larger population-based studies would be required from India before drawing any definite conclusions.

Cerebrotendinous Xanthomatosis: Report of two cases and a novel genetic mutation in an Indian patient.

Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disorder of bile acid metabolism manifesting typically with the triad of neurological dysfunction, tendon xanthoma, and early onset cataract. The diagnosis is often missed and delayed as the patients do not manifest all the classical features. Early recognition and initiation of chenodeoxycholic acid therapy with Hydoxymethylglutaryl Coenzyme-A (HMG-Co-A) inhibitors is critical to prevent irreversible neurological damage and permanently disabled existence. We report about two patients, both of whom remained undiagnosed for more than 20 years. Genetic analysis in one of the patients revealed a novel genetic mutation in one of the homologous genes. The patient was found to have heterozygous mutation of CTX gene with a novel mutation in exon 1 of CYP27A1 gene.

Yoga in female sexual functions.

INTRODUCTION: Yoga is a popular form of complementary and alternative therapy. It is practiced both in developing and developed countries. Female sexual dysfunctions are common and do not always get adequate clinical attention. Pharmacotherapies for treating female sexual dysfunctions are available but suffer from drawbacks such as poor compliance, low efficacy, and side effects. Many patients and yoga protagonists claim that it is useful in improving sexual functions and treating sexual disorders. AIM: To establish the effect yoga can have on female sexual functions. METHODS: We recruited 40 females (age range 22-55 years, average age 34.7 +/- 8.49 years) who were enrolled in a yoga camp and were given a standardized questionnaire named Female Sexual Function Index (FSFI) before and after the 12 weeks session of yoga. MAIN OUTCOME MEASURES: FSFI scores. RESULTS: It was found that after the completion of yoga sessions; the sexual functions scores were significantly improved (P < 0.0001). The improvement occurred in all six domains of FSFI (i.e., desire, arousal, lubrication, orgasm, satisfaction, and pain). The improvement was more in older women (age > 45 years) compared with younger women (age < 45 years). CONCLUSIONS: Yoga appears to be an effective method of improving all domains of sexual functions in women as studied by FSFI.