Correlação entre a presença do polimorfismo Ala D2 da enzima Desiodase tipo 2 (Dio2) e a funcionalidade de indivíduos com transtorno do espectro do autismo
Tipo
Dissertação
Data de publicação
2017-02-07
Periódico
Citações (Scopus)
Autores
Gomez, Thiago Gnecco Bueno
Orientador
Ribeiro, Miriam Oliveira
Título da Revista
ISSN da Revista
Título de Volume
Membros da banca
Paula, Cristiane Silvestre de
Lowenthal, Rosane
Lowenthal, Rosane
Programa
Distúrbios do Desenvolvimento
Resumo
The presence of the Thr92Ala-D2 polymorphism in homozygous individuals seems
related to the increase of cellular oxidative stress, although it does not
phenotypic alterations, suggesting the existence of compensatory mechanisms.
The hypothesis of our study considered the possibility that in individuals
with compensatory mechanisms are not sufficient and the presence of
of the polymorphism may lead to changes in the behavior of these patients.
Therefore, we studied 97 individuals diagnosed with ASD and followed up
In the Center for Integrated Mental Health Care (CAISM). All patients
were evaluated by the Vineland Adaptive Behavior Scale, 2nd
The Autism Behavior Checklist and were genotyped for the
Thr92Ala-D2 polymorphism by extracting DNA from the buccal epithelium. For all
statistical analyzes, the one-way ANOVA test with Tukey's test was
used to analyze the genotypes separately. Our results
show that the presence of Thr92Ala-D2 polymorphism in homozygotes improves
the functionality of autistic individuals in the subdomains of Communication,
Language, Daily Activities and Adaptive Level. In addition, the presence of
92Ala-D2 allele appears to exert a dose-dependent effect, since
When present in heterozygosity the score presents intermediate values
Between polymorphic homozygous (AA) and non-homozygous individuals
Polymorphic (TT). The data obtained were exactly opposite to our hypothesis
Initial. The literature describes changes in the pathways of ubiquitination and
Neuregulin 1 in typical individuals with the polymorphism. This could explain the
Autism, since these two pathways may be
Involved in the TEA phenotype. In conclusion, the present study shows that
Presence of the Thr92Ala-D2 polymorphism in homozygous
Functionality in communication, daily activities, social aspects, general level
adaptation in individuals with ASD.
Descrição
Palavras-chave
transtorno do espectro autista , polimorfismo thr92ala-d2 , funcionalidade
Assuntos Scopus
Citação
GOMEZ, Thiago Gnecco Bueno. Correlação entre a presença do polimorfismo Ala D2 da enzima Desiodase tipo 2 (Dio2) e a funcionalidade de indivíduos com transtorno do espectro do autismo. 2017. 45 f. Dissertação( Distúrbios do Desenvolvimento) - Universidade Presbiteriana Mackenzie, São Paulo.