ABSTRACT
<p><b>OBJECTIVE</b>The aim of this study was to explore the genetic features of a family with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBDD) which may provide the basis for the diagnosis and genetic counseling.</p><p><b>METHOD</b>Clinical data of the proband was collected, total RNA and genomic DNA were extracted from the peripheral blood. The whole coding region of the ACAT1 gene was amplified by RT-PCR. 5' noncoding region of the ACAT1 gene and all 6 exons and flanking intron regions of the HADH2 gene were amplified by PCR. All amplification products were directly sequenced and compared with the reference sequence.</p><p><b>RESULT</b>(1) The patient was a one-year-old boy who presented with psychomotor retardation and astasia when he was admitted to the hospital. Biochemical test revealed slight hyperlactatemia (3.19 mmol/L) and magnetic resonance imaging showed delayed myelination. 2-Methylacetoacetyl-CoA thiolase deficiency was suggested by gas chromatography-mass spectrometry. (2) There was no mutation in the ACAT1 gene and a hemizygous missense mutation c.388C > T was found in the 4 exon of the HADH2 gene which resulted in p. R130C. Proband's mother was the heterozygote and the father was normal.</p><p><b>CONCLUSION</b>This is the first report on MHBDD patient and HADH2 mutation in China. p.R130C is responsible for the pathogenesis of the disease in the infant.</p>
Subject(s)
Humans , Infant , Male , 3-Hydroxyacyl CoA Dehydrogenases , Genetics , Acetyl-CoA C-Acetyltransferase , Genetics , Acyl Coenzyme A , Genetics , Metabolism , Base Sequence , DNA Mutational Analysis , Dyskinesias , Heterozygote , Intellectual Disability , Genetics , Pathology , Lipid Metabolism, Inborn Errors , Genetics , Pathology , Mental Retardation, X-Linked , Mutation, Missense , Pedigree , Reverse Transcriptase Polymerase Chain ReactionABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutation in ALDH5A1 gene for a family affected with succinic semialdehyde dehydrogenase deficiency diagnosed by clinical inspection and urine screening.</p><p><b>METHODS</b>Polymerase chain reaction and direct DNA sequencing were carried out for the affected child and her parents. Suspected ALDH5A1 gene mutations were verified in 100 healthy controls to exclude polymorphisms.</p><p><b>RESULTS</b>The child was found to have carried 2 heterozygous missense mutations in the coding region of ALDH5A1 gene, namely c.527G>A and c.691G>A, for which her mother and father were respectively heterozygotes. The same mutations were not detected in 100 healthy controls. The child was also found to have carried two previously described polymorphisms including a heterozygous c.545C>T(derived from her father) and a homozygous c.538C>T(derived from her mother).</p><p><b>CONCLUSION</b>Missense mutations of c.527G>A and c.691G>A in the ALDH5A1 gene are responsible for the pathogenesis of the disease in this family.</p>
Subject(s)
Adult , Animals , Child, Preschool , Female , Humans , Male , Amino Acid Metabolism, Inborn Errors , Ethnology , Genetics , Amino Acid Sequence , Asian People , Ethnology , Genetics , Base Sequence , China , Ethnology , Developmental Disabilities , Heterozygote , Molecular Sequence Data , Mutation, Missense , Pedigree , Polymorphism, Genetic , Succinate-Semialdehyde Dehydrogenase , GeneticsABSTRACT
OBJECTIVE@#To explore the effect of Fuzhengyangying granules (FZYYG) on the expression of the bone marrow proliferation and bcl-2 in mice with immune mediated aplastic anemia.@*METHODS@#Forty BALB/c mice were randomly allocated to 4 groups: a normal control group, a model group, cyclosporine A (CSA) group and FZYYG group. The model group was fed with physical salt, while the CSA and FZYYG group were fed with CSA and FZYYG respectively, and then the changes of peripheral hemoglobin (Hb), platelet, bone marrow nucleus cell (BMNC), bone marrow hematopoiesis tissue volume and bcl-2 expression were examined.@*RESULTS@#The count of Hb, the platelet, BMNC, the bone marrow hematopoiesis tissue volume and the bcl-2 positive rate in the model group were lower than those in the normal group (P<0.05), whereas the count of Hb, the platelet, BMNC, the bone marrow hematopoiesis tissue volume and the bcl-2 positive rate in both CAS and FZYYG groups were significantly higher than those in the model group (P<0.05).@*CONCLUSION@#FZYYG can induce the bcl-2 antigen expression and postpone the haematogenous cells apoptosis, and it is effective for mice with immune mediated aplastic anemia.