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

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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.

Original languageEnglish
Pages (from-to)49-51
Number of pages3
JournalCellular and Molecular Biology
Volume61
Issue number5
DOIs
Publication statusPublished - 2015

Fingerprint

Cystathionine
Minisatellite Repeats
Poisons
Enzyme activity
Chromosomes
Down Syndrome
Glutathione
Reactive Oxygen Species
Genes
Mothers
Alleles
Chromosomes, Human, Pair 21
Oocytes
Enzymes

Keywords

  • Cystathionine ß-synthase
  • Down syndrome
  • Glutathione
  • Oocytes
  • VNTR

ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology
  • Biochemistry

Cite this

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title = "A peculiar VNTR in the cystathionine β-synthase gene is a risk factor for Down syndrome",
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.",
keywords = "Cystathionine {\ss}-synthase, Down syndrome, Glutathione, Oocytes, VNTR",
author = "Michele Salemi and C. Barone and C. Romano and Salluzzo, {M. G.} and M. Giambirtone and Morale, {M. C.} and Calogero, {A. E.} and L. Grillo and P. Bosco and C. Romano",
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TY - JOUR

T1 - A peculiar VNTR in the cystathionine β-synthase gene is a risk factor for Down syndrome

AU - Salemi, Michele

AU - Barone, C.

AU - Romano, C.

AU - Salluzzo, M. G.

AU - Giambirtone, M.

AU - Morale, M. C.

AU - Calogero, A. E.

AU - Grillo, L.

AU - Bosco, P.

AU - Romano, C.

PY - 2015

Y1 - 2015

N2 - 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.

AB - 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.

KW - Cystathionine ß-synthase

KW - Down syndrome

KW - Glutathione

KW - Oocytes

KW - VNTR

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