The etiology of mild mental retardation remains undefined in about 60% of cases. Even though the causes of mild mental retardation are likely to be heterogeneous, the evidence for genetic involvement is increasing, along with the development of specific diagnostic techniques. To improve our understanding of the genetic basis of mild mental retardation, we explored the role of polymorphisms of adenosine deaminase, an enzyme that is supposed to act as a neuroregulatory protein. To this end, we conducted an association study comparing children with mild mental retardation of unknown origin with two groups of controls: (1) apparently healthy children and (2) children with moderate or severe mental retardation of known etiology. Overall, 338 participants were enrolled in the study. Cases (ie, 80 children) were more likely than controls (ie, 153 healthy children and 105 children with moderate or severe mental retardation) to have the low-activity ADA-Asn 8 (ADA(1) *2) polymorphism (P < .05) and to present the ADA(1) *2/ ADA(2) *1 haplotype. No significant differences were found with respect to adenosine deaminase polymorphisms when comparing the group with moderate or severe mental retardation of known causes and healthy controls. In conclusion, our findings suggest a possible role for a low-activity genotype (ADA-8Asn) (ADA(1) *2) of adenosine deaminase in the pathogenesis of mild mental retardation.

Saccucci, P., Arpino, C., Rizzo, R., Gagliano, A., Volzone, A., Lalli, C., et al. (2006). Association of adenosine deaminase polymorphism with mild mental retardation, 21(9), 753-756 [10.1177/08830738060210091201].

Association of adenosine deaminase polymorphism with mild mental retardation

SACCUCCI, PATRIZIA;ARPINO, CARLA;GALASSO, CINZIA;CURATOLO, PAOLO
2006-09-01

Abstract

The etiology of mild mental retardation remains undefined in about 60% of cases. Even though the causes of mild mental retardation are likely to be heterogeneous, the evidence for genetic involvement is increasing, along with the development of specific diagnostic techniques. To improve our understanding of the genetic basis of mild mental retardation, we explored the role of polymorphisms of adenosine deaminase, an enzyme that is supposed to act as a neuroregulatory protein. To this end, we conducted an association study comparing children with mild mental retardation of unknown origin with two groups of controls: (1) apparently healthy children and (2) children with moderate or severe mental retardation of known etiology. Overall, 338 participants were enrolled in the study. Cases (ie, 80 children) were more likely than controls (ie, 153 healthy children and 105 children with moderate or severe mental retardation) to have the low-activity ADA-Asn 8 (ADA(1) *2) polymorphism (P < .05) and to present the ADA(1) *2/ ADA(2) *1 haplotype. No significant differences were found with respect to adenosine deaminase polymorphisms when comparing the group with moderate or severe mental retardation of known causes and healthy controls. In conclusion, our findings suggest a possible role for a low-activity genotype (ADA-8Asn) (ADA(1) *2) of adenosine deaminase in the pathogenesis of mild mental retardation.
set-2006
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/01 - STATISTICA MEDICA
English
Con Impact Factor ISI
Polymorphism, Genetic; Mental Retardation; Disabled Children; Haplotypes; Child; Severity of Illness Index; Reference Values; Adenosine Deaminase; Humans; Case-Control Studies
Saccucci, P., Arpino, C., Rizzo, R., Gagliano, A., Volzone, A., Lalli, C., et al. (2006). Association of adenosine deaminase polymorphism with mild mental retardation, 21(9), 753-756 [10.1177/08830738060210091201].
Saccucci, P; Arpino, C; Rizzo, R; Gagliano, A; Volzone, A; Lalli, C; Galasso, C; Curatolo, P
Articolo su rivista
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/16420
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