|
Neurology India, Vol. 54, No. 4, October-December, 2006, pp. 446 Letter To Editor Cystathionine beta-synthase T833C/844ins68 polymorphism and stroke Chandra G, Pal S, Gangopadhyay PK Department of Neurology, Calcutta National Medical College, Kolkata - 700 014 Code Number: ni06156 Sir, The article 'Role of MTHFR C677T polymorphism in ishchemic stroke'[1] is quite interesting. Homocysteine (Hcy) has been regarded as a conditional / emerging risk factor for stroke and atherosclerosis. Elevated plasma Hcy level has been implicated in these cardiovascular diseases (CVD).[2] The authors studied polymorphism of the MTHFR gene, whose product is necessary for re-methylation of Hcy to methionine and plays an important role in its metabolism. In this context, we want to mention that we had studied cystathionine-β -synthase (CBS) T833C/844ins68 polymorphism in healthy individuals and diseased patients.[3] Cystathionine-β -synthase catalyzes the condensation of serine and Hcy to form cystathionine and abnormality of CBS gene may result in elevated blood Hcy level. In our study, we evaluated CBS polymorphism in control subjects (138), stroke patients (30) and mentally retarded children (190) as Hcy is regarded as vasculotoxic as well as neurotoxic. We reported a higher percentage of heterozygotes with T833C/844ins68 polymorphism (7.97%) in Indian control individuals than Chinese control population but lower than the figure for the sub-Saharan population.[4] The 844ins68 variant was reported to be associated with premature occlusive arterial disease[5] and claimed to be a risk factor for Chinese congenital heart disease.[6] However, the findings of Zhang and Dai[7] on adult Chinese patients suggested that 844ins68 could provide protection to vascular thromboembolic disease. The mutant allele frequencies among the Indian controls and the CVD patients were 0.0398 and 0.0166 respectively and no association was observed between T833C/844ins68 polymorphism and CVD. Heterozygous T833C/844ins68 alleles were observed at a higher percentage in Indian CVD patients as compared to Chinese ischemic patients (about 1%). The lower value of 3.33% for CVD patients as compared to that of the controls (7.97%) seems to support the idea of a possible protective role of double mutation to thromboembolic disorders, as proposed by Zhang and Dai.[7] Further studies comprising larger number of CVD patients with clinical details, from different parts of our country may be fruitful for drawing conclusions as India is a multi-ethnic vast country. References
Copyright 2006 - Neurology India |
|