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1.
Turk J Pediatr ; 62(6): 921-929, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33372430

RESUMO

BACKGROUND: Mitochondrial uncoupling proteins (UCP) 1, 2 and 3 are members of the anion carrier protein family located in the inner mitochondrial membrane. There are various controversial reports on UCP genotypes and obesity in adults and children. This study aims to investigate the link between mostly studied UCP polymorphisms (UCP1-3826A/G, UCP2 Insertion/Deletion (Ins/Del) polymorphism of exon 8, and UCP3-55C/T Polymorphisms) and obesity in Turkish children. Furthermore, the relationships of UCP polymorphisms are also analyzed within the scope of metabolic parameters of obese children. METHODS: Molecular screening of the UCP1, UCP2, and UCP3 gene polymorphisms was carried out in 189 children aged 6 to 18 years, 102 of who had exogenous obesity (54 girls) and 87 of whom were healthy controls (48 girls). In the obese group, fasting lipids, glucose and insulin levels were measured. In 60 obese children, an oral glucose tolerance test (OGTT) was performed with 0, 30, 60, 90 and 120 minutes of sampling for plasma glucose and insulin levels. RESULTS: The frequency of UCP polymorphisms was similar in obese and non-obese children. In obese children, fasting lipids, glucose and insulin levels were not different among the UCP 1, 2 and 3 genotypes. While no relationship was found between the UCP 1 and 3 genotypes and glucose/insulin levels during OGTT, carriers of the Insertion allele with UCP2 Ins/Del polymorphism had significantly higher 30-minute insulin levels (p=0.018). CONCLUSIONS: Polymorphisms of the UCP1-3826A/G, UCP2 Ins/Del, and UCP3-55C/T are not associated with obesity and related pathologies in Turkish children. However, the presence of the Ins allele of the UCP2 gene has been found to have an unfavorable influence on early insulin excursion after glucose loading.


Assuntos
Canais Iônicos , Obesidade Infantil , Adulto , Criança , Feminino , Humanos , Canais Iônicos/genética , Proteínas Mitocondriais/genética , Proteínas de Desacoplamento Mitocondrial , Obesidade Infantil/genética , Polimorfismo Genético , Proteína Desacopladora 1 , Proteína Desacopladora 2/genética , Proteína Desacopladora 3/genética
2.
J Child Neurol ; 30(12): 1586-90, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25818327

RESUMO

This study compared superoxide dismutase (SOD) and catalase (CAT) alleles in 97 consecutive children and adolescents with migraine to 96 healthy children and adolescents. Isolated genomic DNA was used as a template for SOD1 (35 A/C), SOD2 16 C/T, and CAT2 [(-262 C/T) and (-21 A/T)] allele genotyping. The SOD2 16 C/T genotype and C allele frequency differed significantly between controls and migraine (P = .047; P = .038). CAT -21 AA genotype and A allele frequency were significantly higher in both migraine with aura patients (P = .013; P = .004) and migraine without aura patients (P = .003; P = .001) compared to controls. To our knowledge, this is the first demonstration of differences in SOD and CAT genotypes between pediatric migraine patients and age-matched controls. Further studies on the functional implications of these genetic variants on neural antioxidant capacity and the use of antioxidant modulators for migraine treatment are warranted.


Assuntos
Catalase/genética , Enxaqueca com Aura/genética , Enxaqueca sem Aura/genética , Superóxido Dismutase/genética , Adolescente , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Técnicas de Genotipagem , Humanos , Masculino , Enxaqueca com Aura/enzimologia , Enxaqueca sem Aura/enzimologia , Polimorfismo de Nucleotídeo Único , Superóxido Dismutase-1
3.
J Child Neurol ; 30(1): 27-31, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24619148

RESUMO

There is no information about the role of transforming growth factor-beta 1 (TGF-ß1) in the pathogenesis of pediatric migraine. This study included 100 consecutive children and adolescents in whom migraine was diagnosed and 88 healthy children and adolescents. The isolated genomic DNA was used as a template for TGFß-1 (-800G/A, -509C/T, 869T/C [codon 10] and 915G/C [codon 25]) genotyping. The allelic frequency of 509C/T was significantly different between control and migraine without aura patients (P = .04). Codon 10 C/T genotypic and C10 C allelic frequency of TGF-ß1 polymorphisms were significantly higher in migraine and migraine without aura patients versus healthy controls (P = .00; P = .00). To our knowledge, this is the first report dealing with the relationship between TGF-ß1 genotype and migraine in the pediatric age group. Further studies related to this subject are needed, along with a search for new therapeutic agents with anti-inflammatory properties.


Assuntos
Predisposição Genética para Doença , Transtornos de Enxaqueca/genética , Polimorfismo Genético/genética , Fator de Crescimento Transformador beta1/genética , Adolescente , Criança , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino
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