RESUMO
OBJECTIVE: To compare the correlations between salivary alpha-amylase (sAA) activity and amylase, alpha 1 (salivary) gene (AMYl) copy number or its gene expression between splenic asthenia and healthy children, and investigate the reasons of attenuated sAA activity ratio before and after citric acid stimulation in splenic asthenia children. METHODS: Saliva samples from 20 splenic asthenia children and 29 healthy children were collected before and after citric acid stimulation. AMYl copy number, sAA activity, and total sAA and glycosylated sAA contents were determined, and their correlations were analyzed. RESULTS: Although splenic asthenia and healthy children had no differences in AMY1 copy number, splenic asthenia children had positive correlations between AMY1 copy number and sAA activity before or after citric acid stimulation. Splenic asthenia children had a higher sAA glycosylated proportion ratio and glycosylated sAA content ratio, while their total sAA content ratio and sAA activity ratio were lower compared with healthy children. The glycosylated sAA content ratio was higher than the total sAA content ratio in both groups. Splenic asthenia and healthy children had positive correlations between total sAA or glycosylated sAA content and sAA activity. However, the role played by glycosylated sAA content in sAA activity in healthy children increased after citric acid stimulation, while it decreased in splenic asthenia children. CONCLUSION: Genetic factors like AMY1 copy number variations, and more importantly, sAA glycosylation abnormalities leading to attenuated sAA activity after citric acid stimulation, which were the main reasons of the attenuated sAA activity ratio in splenic asthenia children compared with healthy children.
Assuntos
Astenia/enzimologia , Ácido Cítrico/metabolismo , Dosagem de Genes , alfa-Amilases Salivares/genética , alfa-Amilases Salivares/metabolismo , Esplenopatias/enzimologia , Astenia/genética , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Saliva/enzimologia , Esplenopatias/genéticaAssuntos
Corpos de Inclusão/ultraestrutura , Músculos/patologia , Doenças Musculares/congênito , Miofibrilas , Medula Espinal/patologia , Adenosina Trifosfatases/metabolismo , Adolescente , Astenia/enzimologia , Astenia/ultraestrutura , Criança , Feminino , Histocitoquímica , Humanos , Masculino , Microscopia Eletrônica , Músculos/enzimologia , Doenças Musculares/enzimologia , Doenças Musculares/ultraestrutura , Miofibrilas/enzimologia , Miofibrilas/ultraestrutura , NADH NADPH Oxirredutases/metabolismo , Fosforilases/metabolismo , Síndrome , Sais de TetrazólioRESUMO
Clinical and biochemical findings in skeletal muscle in 11 patients with chronic fatigue myalgia syndromes of unknown aetiology are reported. All patients had severe asthenia for from one to 10 years with greatly limited exercise capacity and protracted exhaustion after minor exercise. Diffuse myalgia was prominent and was exacerbated for hours to days after exercise. Assay of skeletal muscle carnitine, phosphorylase, all glycolytic enzymes and the mitochondrial marker enzymes monoamine oxidase, isocitrate dehydrogenase and cytochrome oxidase were normal. These findings lend no support to the presence of a major defect in muscle intermediary energy pathways in this syndrome.