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Year : 2006  |  Volume : 54  |  Issue : 4  |  Page : 446

Cystathionine beta-synthase T833C/844ins68 polymorphism and stroke

1 Laboratory of Clinical and Experimental Neuroscience, Indian Institute of Chemical Biology, 4, Raja S C Mullick Road, Kolkata - 700 032, India
2 Department of Neurology, Calcutta National Medical College, Kolkata - 700 014, India

Correspondence Address:
P K Gangopadhyay
Department of Neurology, Calcutta National Medical College, Kolkata - 700 014
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.28132

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How to cite this article:
Chandra G, Pal S, Gangopadhyay P K. Cystathionine beta-synthase T833C/844ins68 polymorphism and stroke. Neurol India 2006;54:446

How to cite this URL:
Chandra G, Pal S, Gangopadhyay P K. Cystathionine beta-synthase T833C/844ins68 polymorphism and stroke. Neurol India [serial online] 2006 [cited 2022 Aug 7];54:446. Available from: https://www.neurologyindia.com/text.asp?2006/54/4/446/28132


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 Top

1.Panigrahi I, Chatterjee T, Biswas A, Behari M, Choudhry PV, Saxena R. Role of MTHFR C677T polymorphism in ischemic stroke. Neurol India 2006;54:48-52.  Back to cited text no. 1    
2.Ford ES, Smith SJ, Stroup DF, Steinberg KK, Mueller PW, Thacker SB. Homocyst(e)ine and cardiovascular disease: A systematic review of the evidence with special emphasis on case-control studies and nested case-control studies. Int J Epidemiol 2002;31:59-70.  Back to cited text no. 2  [PUBMED]  [FULLTEXT]
3.Dutta S, Sinha S, Chattopadhyay A, Gangopadhyay PK, Mukhopadhyay J, Singh M, et al . Cystathionine beta-synthase T833C/844INS68 polymorphism: A family-based study on mentally retarded children. Behav Brain Funct 2005;26:1-25.  Back to cited text no. 3    
4.Pepe G, Vanegas OC, Rickards O, Giusti B, Comeglio P, Brunelli T, et al . World distribution of the T833C/844INS68 CBS in cis double mutation: A reliable anthropological marker. Hum Genet 1999;104:126-9.   Back to cited text no. 4    
5.Orendac M, Muskova B, Richterova E, Zvarova J, Stefek M, Zaykova E, et al . Mutation C677T in MTHFR gene and polymorphism 844 ins68 in the CBS gene: Risk factor for peripheral arterial occlusive disease? Neth J Med Suppl 1998;52:S47.  Back to cited text no. 5    
6.Li Y, Cheng J, Zhu WL, Dao JJ, Yan LY, Li MY, et al . Study of serum Hcy and polymorphisms of Hcy metabolic enzymes in 192 families affected by congenital heart disease. Beijing Da Xue Xue Bao 2005;37:75-80.  Back to cited text no. 6    
7.Zhang G, Dai C. Gene polymorphisms of homocysteine metabolism-related enzymes in Chinese patients with occlusive coronary artery or cerebral vascular diseases. Thromb Res 2001;104:187-95.   Back to cited text no. 7  [PUBMED]  [FULLTEXT]

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