A peculiar VNTR in the cystathionine β-synthase gene is a risk factor for Down Syndrome.

A peculiar VNTR in the cystathionine β-synthase gene is a risk factor for Down Syndrome. Cell Mol Biol (Noisy-le-grand). 2015;61(5):49-51 Authors: Salemi M, Barone C, Romano C, Salluzzo MG, Giambirtone M, Morale MC, Calogero AE, Grillo L, Bosco P, Romano C Abstract In the present study, we analysed a 31bp variable number of tandem repeats (VNTR) of the cystathionine ß—synthase (CBS) gene in 427 subjects: 127 patients with Down syndrome (DS) and in 60 of their mothers; 172 age—and sex—matched controls and in 68 of their mothers. A significant statistical difference in the distribution of the 21 repeat allele was found comparing mothers of subjects with DS versus mothers of children without DS (χ2= 4.166; P = 0.0413; Table 2). Since CBS 21 repeats allele carriers show a decrease of CBS enzyme activity possibly leading to lower intracellular glutathione concentration, these results could be explained by a higher not disjunction probability of chromosome 21 in oocytes, due to poor antioxidative protection against reactive oxygen species (ROS) toxic activity. PMID: 26475388 [PubMed - in process]
Source: Cellular and Molecular Biology - Category: Molecular Biology Tags: Cell Mol Biol (Noisy-le-grand) Source Type: research