title: Clinical implications of duplicated mtDNA in Pearson syndrome.
abstract: We report on a seven-year-old Japanese boy with Pearson syndrome, which is characterized by refractory sideroblastic anemia with vacuolization of marrow precursors and dysfunction of the exocrine pancreas, and caused by mitochondrial (mt) DNA deletions and duplications. Although analysis with Southern hybridization on his bone marrow cells at age one year or on the muscle at age five years did not detect any duplications of mtDNA, an analysis after death at age seven years detected them in the kidney, heart, and even in the bone marrow. Using long PCR to specifically amplify duplicated mtDNA, we found duplications in all biopsy and postmortem samples, indicating that duplications had been present in the patient since his early life, and that the number of duplications increased with age. The results indicate some dynamism in the mtDNA duplication and that the dynamism may imply clinical importance.
authors.affiliation: Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan. kaem@ncnp.go.jp
authors.forename: K
authors.initials: K
authors.lastname: Muraki
authors.forename: N
authors.initials: N
authors.lastname: Sakura
authors.forename: H
authors.initials: H
authors.lastname: Ueda
authors.forename: H
authors.initials: H
authors.lastname: Kihara
authors.forename: Y
authors.initials: Y
authors.lastname: Goto
mesh_terms: D015139:Blotting, Southern; D001855:Bone Marrow Diseases / Q000235:genetics / Q000473:pathology*; D002648:Child; D004247:DNA / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D017809:Fatal Outcome; D017353:Gene Deletion; D020440:Gene Duplication; D006801:Humans; D008297:Male; D010182:Pancreatic Diseases / Q000235:genetics / Q000473:pathology*; D013577:Syndrome
chemical_list: D004272:DNA, Mitochondrial; D004247:DNA