ABSTRACT
Galactosemia, a term that denotes the presence of galactose in the blood, is the name of rare inborn error of galactose metabolism due to a deficiency of the enzyme galactokinase (GALK), galactose-1-phosphate uridyltransferase (GALT) and uridine diphosphate-galactose 4-epimerase (GALE). GALT deficiency is the most common and shows the most severe clinical manifestation, including hepatomegaly, cataracts, and mental retardation. The main symptom of GALT deficiency is juvenile cataracts. GALE deficiency has two different forms; benign and severe forms. The benign form has no clinical significance, however, the severe form shows the same clinical manifestations as those of GALT deficiency.
Subject(s)
Cataract , Galactokinase , Galactose , Galactosemias , Hepatomegaly , Intellectual Disability , Metabolism , Uridine , UTP-Hexose-1-Phosphate UridylyltransferaseABSTRACT
Galactosemia is a rare autosomal recessive disorder caused by the deficiency of galactose-1-phosphate uridyltransferase (GALT) enzyme activity. Classic galactosemia (G/G) is due to severe GALT deficiency in the presence of a GALT gene mutation, whereas Duarte variant (D/D) has 50% of normal GALT activity and benign clinical course. The D2 allele of Duarte variant is linked to a promoter deletion 5' to the translation start site (-119 to -116 delGTCA) in addition to N314D. So, Duarte variant/classical galactosemia (D/G) compound heterozygotes have relatively mild clinical manifestation than classical galactosemia and can be differentiated from classical galactosemia or Duarte variant by mutational analysis. We report a case of D/G galactosemia compound heterozygote proven by the reduction of GALT enzyme activity in erythrocytes and mutation analysis of GALT gene, which revealed N314D polymorphism and -119 to -116 delGTCA.
Subject(s)
Alleles , Erythrocytes , Galactosemias , Heterozygote , UTP-Hexose-1-Phosphate UridylyltransferaseABSTRACT
The author relates experimental work which lead him to conclude for the presence of galactokinase in animal tissues, explaining in this way that the first step of the galactose intermediary metabolism is its esterification, in the presence of ATP and the enzyme in question, activated by magnesium to galactose-1-phosphate.
O autor relata trabalhos experimentais que o levaram a concluir pela existência da galactoquinase em tecidos animais, explicando desta maneira, que a primeira fase do metabolismo intermediário da galactose nos mesmos é a sua esterificação, em presença do ATP e da enzima em questão, ativada pelo magnésio, para galactose-1-fosfato.
ABSTRACT
Objective:The experiment was designed to apply proteomics to analyze the signal transduction molecules in T lymphocyte strain JurkatD1.1 cells with the stimulation of prolactin.Methods:JurkatD1.1 cells were cultured in the presence of recombinant human prolactin(rhPRL).Phosphated metal affinity chromography(PMAC) and immunoprecipitation(IP) assay were applied to enrich phosphoproteins from the total cell lystates which were resolved by one-dimensional electrophoresis(1 DE) or 2 DE.The different bands and different spots in the gels between control group and rhPRL-treated group were excised,digested,and analyzed by MALDI-TOF mass spectrometry.Results:Three major protein bands were observed specifically in the rhPRL-treated group and other two major protein bands were observed specifically in the control group.The bands were excised and analyzed by MALDI-TOF mass spectrometry.Protein band a in rhPRL-treated group was successfully identified as hot shock protein 90(hsp90).Nine different protein spots which were observed in the 2 DE gels between the two groups were excised and analyzed by MALDI-TOF mass spectrometry.In the rhPRL-treated group the protein spot 4 was identified as nuclear receptor co-repressor 2 variant(NcoR 2 variant);The protein spot 5 was identified as galactose-1-phosphate uridyl transferase;And the protein spot 6 was identified as zinc finger ZIM3.Conclusion:Hot shock protein 90 participates the signal transduction pathways of prolactin.Nuclear receptor co-repressor 2 variant and zinc finger ZIM3 may play a role in the process of prolactin modulating target genes' expression.