Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002874 (aplastic anemia)
 5,905 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This study was primarily undertaken to test the hypothesis that mitochondrial DNA (mtDNA) mutations may be associated with aplastic anemia (AA). We analyzed mtDNA sequences from 15 patients with AA. The samples were obtained from bone marrow, and patients' oral epithelial cells were collected for normal tissue comparison. Total DNA was amplified by PCR after extraction, and these segments were then sent for sequencing. The results were compared with those of oral epithelial tissues as well as mtDNA sequences in the revised Cambridge Reference Sequence (rCRS) database. We detected 61 heteroplasmic mutations in 11 genes, including those encoding NADH dehydrogenase (ND)1-2 and 4-6, tRNA glutamic acid (TRNE), ribosomal RNA (RNR) 1 and 2, cytochrome c oxidase (COX1), cytochrome b (CYTB), and tRNA glycine (TRNG); mutation rates were particularly high in ND2 (34.4%) and ND4 (21.3%) in the patients' mtDNA genomes. The products of these genes are involved in oxidation in the respiratory chain, and a large number of homoplasmic mutations were found. Interestingly, these 162 polymorphisms were mostly in the D-loop DNA structure (54.3%), in which numerous mutations associated with leukemia and myelodysplastic syndromes are found. We conclude that functional impairment of the mitochondrial respiratory chain induced by mutation may be an important reason for hematopoietic failure in AA patients.
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PMID:Complete sequence analysis of mitochondrial DNA of aplastic anemia patients. 2331 12

Recently, a growing number of reports had shown the association between mitochondrial DNA (mtDNA) sequence variants and aplastic anemia (AA). Owing to its high mutation rate, mtDNA variant had become biomarker for clinical and molecular diagnosis for AA. However, the relationship between mtDNA variant and AA was largely unknown. In this study, we reanalyzed the possible association between a "pathogenic" mutation A10055G in mt-tRNA(Gly) gene and AA, through the application of bioinformatics tool, we found that this mutation did not alter the secondary structure of tRNA(Gly), the pathogenicity scoring system indicated that the score of this mutation was only two points and belonged to a "neutral polymorphism", suggested that the role of A10055G mutation in clinical expression in AA needed to be further experimentally addressed.
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PMID:Variant at position 10,055 in mitochondrial tRNA(Gly) gene has a negative association with aplastic anemia. 2562 98

Metabolomics is the identification and quantitation of small molecules that are involved in metabolic reactions. Liquid chromatography-mass spectrometry (LC-MS) has enjoyed growing popularity as the platform for metabolomic studies due to high throughput, soft ionization, and good coverage of metabolites. Serum metabolites of aplastic anemia (AA) patients and healthy controls were investigated using LC-MS. A wavelet-based method was utilized to find and align LC-MS peaks. Principal component analysis, partial least squares discriminant analysis, and optimized potential for liquid simulations were used to identify differences in metabolite levels, and to reveal useful biomarkers. Thirty-two metabolites that were significantly altered were detected. Of these metabolites, 23 were successfully identified. In AA patients, metabolites involved amino acid biosynthesis, aminoacyl-tRNA biosynthesis, and ATP-binding cassette transporters were higher than normal, while the levels of metabolites involved in TCA cycles were lower than normal. These changes may be the primary cause or result of bone marrow failure in patients with AA.
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PMID:Abnormal metabolites related to bone marrow failure in aplastic anemia patients. 2653 86