Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene.

Background: Succinyl-coenzyme A ligase (SUCL) is a mitochondrial enzyme that catalyses the reversible conversion of succinyl-coenzyme A to succinate. SUCL consists of an α subunit, encoded by SUCLG1, and a β subunit, encoded by either SUCLA2 or SUCLG2. Recently, mutations in SUCLG1 or SUCLA2 have been identified in patients with infantile lactic acidosis showing elevated urinary excretion of methylmalonate, mitochondrial respiratory chain (MRC) deficiency, and mitochondrial DNA depletion.

Efficacy of idebenone for respiratory failure in a patient with Leigh syndrome: a long-term follow-up study.

Respiratory failure can be the direct cause of death in patients with Leigh syndrome. Unfortunately, no effective treatment strategy is available. Here, we report successful treatment of a patient with Leigh syndrome using idebenone, a derivative of coenzyme Q-10.

Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.

Fabry disease is an X-linked recessive inborn metabolic disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (EC 3.2.1.

The GSTP1 gene is a susceptibility gene for childhood asthma and the GSTM1 gene is a modifier of the GSTP1 gene.

Background: Bronchial asthma is a chronic airway disorder characterized by bronchial inflammation. Oxidative stress is a key component of inflammation. Glutathione S-transferase P1 (GSTP1), the abundant isoform of glutathione S-transferases (GSTs) in lung epithelium, plays a key role in cellular protection against oxidative stress.

Detection of human coronavirus-NL63 in children in Japan.

Human coronavirus NL63 recently found in The Netherlands has been detected in Japan with a reverse transcription-polymerase chain reaction technique in clinical specimens from pediatric patients with respiratory symptoms. Of 419 specimens that were negative for common respiratory viruses, 5 were positive for human coronavirus NL63, and these specimens were all collected in the first 3 months of 2003.

A unique immunofluorescence method promotes accurate diagnosis in MYH9 disorders: a case report.

The identification of a mutation in the MYH9 gene in hereditary macrothrombocytopenia has established a distinct entity proposed as "MYH9 disorders," which previously have often been misdiagnosed as chronic immune thrombocytopenic purpura. The authors describe clinical and laboratory characterization of a family with the disorder demonstrating giant platelets, thrombocytopenia, and leukocyte inclusion bodies. The authors emphasize the efficacy of a unique immunofluorescence method for the nonmuscle myosin heavy chain A in the diagnosis, because it is more sensitive than May-Grünwald-Giemsa staining and more practical than electron microscopy or direct sequencing.

A Unique Immunofluorescence Method Promotes Accurate Diagnosis in MYH9 Disorders: A Case Report.

The identification of a mutation in the MYH9 gene in hereditary macrothrombocytopenia has established a distinct entity proposed as "MYH9 disorders," which previously have often been misdiagnosed as chronic immune thrombocytopenic purpura. The authors describe clinical and laboratory characterization of a family with the disorder demonstrating giant platelets, thrombocytopenia, and leukocyte inclusion bodies. The authors emphasize the efficacy of a unique immunofluorescence method for the nonmuscle myosin heavy chain A in the diagnosis, because it is more sensitive than May-Grünwald-Giemsa staining and more practical than electron microscopy or direct sequencing.

Linkage and association of childhood asthma with the chromosome 12 genes.

Several studies have shown linkage of chromosome region 12q13-24 to bronchial asthma and related phenotypes in ethnically diverse populations. In the Japanese population, a genome-wide study failed to show strong evidence of linkage of this region. Chromosome 12 genes that showed association with the disease in at least one report include: the signal transducer and activator of transcription 6 gene ( STAT6), the nitrogen oxide synthetase 1 gene ( NOS1), the interferon gamma gene ( IFNG), and the activation-induced cytidine deaminase gene ( AICDA).

Gene therapy for mitochondrial disease by delivering restriction endonuclease SmaI into mitochondria.

The restriction endonuclease SmaI has been used for the diagnosis of neurogenic muscle weakness, ataxia and retinitis pigmentosa disease or Leigh's disease, caused by the Mt8993T-->G mutation which results in a Leu156Arg replacement that blocks proton translocation activity of subunit a of F(0)F(1)-ATPase. Our ultimate goal is to apply SmaI to gene therapy for this disease, because the mutant mitochondrial DNA (mtDNA) coexists with the wild-type mtDNA (heteroplasmy), and because only the mutant mtDNA, but not the wild-type mtDNA, is selectively restricted by the enzyme. For this purpose, we transiently expressed the SmaI gene fused to a mitochondrial targeting sequence in cybrids carrying the mutant mtDNA.