Genetic analysis of a child with fructose-1, 6 bisphosphatase deficiency / 中华医学遗传学杂志

OBJECTIVE@#To analyze the genetic variant of a child with fructose-1, 6 bisphosphatase deficiency.@*METHODS@#Potential variant of the FBP1 gene was detected by next generation sequencing and verified by Sanger sequencing.@*RESULTS@#A compound heterozygous variant, c.826-2T>C and c.490G>A (p.Gly164Ser), was detected in the FBP1 gene. Among them, the c.490G>A(p.Gly164Ser) variant was derived from his mother and known to be pathogenic. The c.826-2T>C variant was derived from his father and was not reported previously.@*CONCLUSION@#The compound heterozygous variant of c.826-2T>C and c.490G>A(p.Gly164Ser) of the FBP1 gene probably underlie the disease in this patient. Genetic testing can facilitate diagnosis and genetic counseling and prenatal diagnosis.

Actividad de la 6-fosfofructo-2-quinasa y contenido de fructosa-2.6-bifosfato en glándulas parotidas de ratas despues del tratamiento con isoproterenol / Activity of 6-phosphofructo-2-quinase (PFK-2) and contents of fructose-2.6-biphosphate in parotid glands of the rats after treatment of isoproterenol

La sialadenosis en animales de laboratorio puede ser provocada por la administración de un agonista betadrenérgico conocido como isoproterenol. Su efecto produce hipertrofia e hiperplasia de las glándulas salivales, especialmente de la glándula parótida. La 6-fosfofructo-2-quinasa (PKF-2) es una enzima bifuncional que cataliza tanto la síntesis como la degradación de la fructosa-2,6-difosfato. este metabolito es un potente activador de la 6-fosfofructo-1-quinasa (PKF-1) enzima clave en el proceso glucolítico. En este trabajo determinamos la actividad de la PKF-2 y el contenido de fructosa-2,6-bifosfato en glándulas parótidas de ratas, al ser estimuladas con varias dosis de isoproterenol

Inhibitation of gluconeogenic enzymes in rat liver after intraperitoneal sublethal doses of dimethoate

Male Wistar rats were injected with dimethoate intraperitoneally for 7 successive days. The treated animals suffered from a significant loss in the body weight and liver weight compared to the control group. Two gluconeogenic enzymes: phosphoenolpyruvate carboxykinase [PEPCK] and Fructose 1.6-bisphosphatase [FBP ase] were examined in liver. A significant decrease in activity of both enzymes was found in the treated rats. This inhibition was at a significant value of P<0.05 for FBP ase and P<0.001 for PEPCK