A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene / 대한소아소화기영양학회지

Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme leading to progressive liver disease. GSD IV is associated with mutations in GBE1, which encodes the glycogen branching enzyme. We report a case of GSD IV with rare homozygous mutations in the GBE1 gene (c.791G>A (p.Gly264Glu), which was successfully treated by liver transplantation.

Avaliação da concentração de proteínas e da atividade de α-galactosidases nos cotilédones e no eixo embrionário de sementes de Dalbergia nigra durante a germinação / Proteins and activity of α-galactosidases determination in cotyledons and embryonic axis of Dalbergia nigra seeds during germination

Este trabalho teve como objetivos a quantificação de proteínas e da atividade da enzima α-galactosidase, no eixo embrionário e nos cotilédones, de sementes de Dalbergia nigra (jacarandá-da-bahia) durante a germinação. As sementes foram colocadas para embeber em água por sete dias, sendo retiradas amostras para a avaliação bioquímica e cinética da enzima. A atividade da enzima α-galactosidase aumenta com a embebição das sementes nos dois compartimentos, embora não esteja presente no eixo embrionário de sementes secas. A diferença na atividade da enzima entre os cotilédones e o eixo embrionário foi significativa. O pH 5,5 foi o de máxima atividade para as enzimas de ambos os compartimentos. A temperatura que mais estimulou a atividade da enzima nos cotilédones foi 50 ºC e de 50 a 60 ºC no eixo embrionário. A atividade da α-galactosidase foi inibida por ß-mercaptoetanol e cobre, em ambos os compartimentos, enquanto a lactose e o cloreto de sódio estimularam a atividade tanto nos cotilédones como no eixo embrionário. Os valores de K M para enzimas do eixo embrionário e dos cotilédones foram de 0,239 e 0,228 mM, respectivamente.

This work aimed to quantify the protein content and the α-galactosidase activity in the embryonic axis and in the cotyledons of Dalbergia nigra seeds during the imbibition period. The seeds were submitted to water imbibition during seven days. Biochemical and kinetic characterization of the enzyme were done from samples taken during the imbibition period. The activity of the α-galactosidase increased in the two compartments with the soaking of the seeds, although, the enzyme activity was not detected in the embryonic axis of dry seeds. The difference in the activity of the enzyme between cotyledons and embryonic axis was significant. The pH of maximum activity was 5.5 for the enzyme of both compartments. In the cotyledons the higher activity of the enzyme was obtained at 50 ºC. In the embryonic axis the activity was higher at temperatures ranging from 50 to 60 ºC. The activity of the α-galactosidase was inhibited by ß-mercaptoethanol and CuSO4 in both compartments, while lactose and sodium chloride stimulated the activity in the cotyledons and in the embryonic axis. The values of K M for the enzymes of the embryonic axis and cotyledons were respectively 0.239 and 0.228 mM.

The main nutrients digestibility of genetically modified rice and parental rice in the terminal ileum of pigs / 中华预防医学杂志

<p><b>OBJECTIVE</b>To compare the digestibility of main nutrients in genetically modified rice with double antisense starch-branching enzyme gene and parental rice.</p><p><b>METHODS</b>Seven Wuzhishan healthy adult barrows were surgically fitted with a T-cannula at the terminal ileum. After surgery, seven pigs were randomly divided into two groups, and fed genetically modified rice and parental rice by a crossover model. Ileal digesta were collected for analysis of main nutrient digestibility.</p><p><b>RESULTS</b>The apparent digestibility levels of protein in genetically modified rice and parental rice were 69.50% ± 4.50%, 69.61% ± 8.40%, respectively (t = 0.01, P = 0.994); true digestibility levels of protein were 87.55% ± 4.95%, 87.64% ± 9.40%, respectively (t = 0.01, P = 0.994); fat digestibility levels were 72.86% ± 0.34%, 77.89% ± 13.09%, respectively (t = 0.95, P = 0.378); carbohydrate digestibility levels were 72.92% ± 7.43%, 92.35% ± 5.88%, respectively (t = 4.27, P = 0.005). The apparent and true digestibility of 17 amino acids had no significant difference in the two rice.</p><p><b>CONCLUSION</b>Carbohydrate digestibility in genetically modified rice was significantly lower than that in non-genetically modified rice, other main nutrients digestibility in the two rice have substantial equivalence.</p>

Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation

Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal glycogen deposits in the liver and other tissues. We treated a 20-month-old girl who presented with progressive liver cirrhosis and was diagnosed with GSD-IV, as confirmed by GBE1 gene mutation analysis, and underwent living related heterozygous donor liver transplantation. Direct sequencing of the GBE1 gene revealed that the patient was compound heterozygous for a known c.1571G>A (p.Gly264Glu) mutation a novel c.791G> A (Arg524Gln) mutation. This is the first report of a Korean patient with GSD-IV confirmed by mutation analysis, who was treated successfully by liver transplantation.

A novel M142T mutation in the B glycosyltransferase gene associated with B3 variant in Chinese / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the molecular genetic basis of the B3 variant of ABO blood group system with mixed-field hemagglutination in Chinese.</p><p><b>METHODS</b>Serological techniques were performed to characterize the erythrocyte phenotype of two discrepant samples. A sequential agglutination method and 13 short tandem repeat (STR) loci were tested to exclude the possibility of exogenous or endogenous DNA chimera. Mutations in exons 6 and 7, including partial intron of the ABO gene, were screened by polymerase chain reaction and DNA sequencing. Haplotypes of the two individuals were also analyzed by sequencing.</p><p><b>RESULTS</b>A mixed-field hemagglutination of RBCs with anti-B and anti-AB antibodies was detected in the two unrelated individuals. Exogenous ABO-incompatible RBC transfusion and endogenous genetic chimera were excluded by sequential agglutination method and STR. The ABO phenotypes of the two individuals were classified as A1B3 according to the ABO subgroup definition. The sequence region from intron 5 to 3'-UTR of the B allele was identical to that of ABO*B101 allele, except for a T to C substitution at nucleotide position 425 in exon 7. This substitution resulted in an amino acid change of M142T in the B glycosyltransferase.</p><p><b>CONCLUSION</b>A novel B allele with 425T>C substitution resulting in B3 subgroup was identified in two Chinese individuals.</p>

Glicogenose tipo IV: relato de dois casos / Type IV glycogenosis: report of two cases

Alteraçöes histopatológicas do fígado em material de biópsia de duas crianças de sete meses a três anos foram descritas e comparadas com as previamente relatadas na literatura. O diagnóstico foi feito com base nas manifestaçöes clínicas, achados de microscopia óptica e, em um dos casos, nos achados ultra-estruturais