Co-existing point mutations of mitochondrial DNA in a patient with a heart abnormality and Pearson syndrome-like symptoms [3]

American Journal of Medical Genetics, Part A

Volumn 139 A, Issue 2, 2005, Pages 162-164

  Munakata, Kae ^a   Bundo, Miki ^a   Kato, Tadafumi ^a   Ono, Hiroaki ^b   Sakura, Nobuo ^b   Oosaki, Minoru ^c   Waki, Chiaki ^c   Tanaka, Masashi ^d  

^a RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^b HIROSHIMA UNIV SCHOOL OF MEDICINE   (Japan)

^c TSUCHIYA GENERAL HOSPITAL   (Japan)

^d TOKYO METROPOLITAN INSTITUTE OF GERONTOLOGY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ANAMNESIS; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL HEART MALFORMATION; ECHOCARDIOGRAPHY; FAMILY HISTORY; GENE DELETION; GENE DUPLICATION; HUMAN; LETTER; PEARSON SYNDROME; POINT MUTATION; PRIORITY JOURNAL; SIDEROBLASTIC ANEMIA; SOUTHERN BLOTTING; CASE REPORT; GENETICS; MALE; SYNDROME;

DNA, MITOCHONDRIAL; HEART DEFECTS, CONGENITAL; HUMANS; MALE; POINT MUTATION; SYNDROME;

EID: 33645859060     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31003     Document Type: Letter

References (15)

1. Akanuma J, Muraki K, Komaki H, Nonaka I, Goto Y. 2000. Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene. J Hum Genet 45:337-341.
2. Brandon MC, Lott MT, Nguyen KC, Spolim S, Navathe SB, Baldi P, Wallace DC. 2005. MITOMAP: A human mitochondrial genome database-2004 update. Nucleic Acids Res 33:D611-D613.
3. Chomyn A, Lai ST, Shakeley R, Bresolin N, Scarlato G, Attardi G. 1994. Platelet-mediated transformation of mtDNA-less human cells: Analysis of phenotypic variability among clones from normal individuals-And complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers. Am J Hum Genet 54:966-974.
4. Ingman M, Kaessmann H, Paabo S, Gyllensten U. 2000. Mitochondrial genome variation and the origin of modern humans. Nature 408:708-713.
5. Ingman M, Gyllensten U. 2003. Mitochondrial genome variation and evolutionary history of Australian and New Guinean Aborigines. Gen Res 13:600-1606.
6. King MP, Attardi G. 1989. Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation. Science 246:500-503.
7. Muraki K. 1999. Clinical features and molecular genetic study of Pearson syndrome. Jpn J Pediatr Hematol 13:346-352 (Japanese).
8. Muraki K, Goto Y, Nishino I, Hayashidani M, Takeuchi S, Horai S, Sakura N, Ueda K. 1997. Severe lactic acidosis and neonatal death in Pearson syndrome. J Inherit Metab Dis 20:43-48.
9. Pearson HA, Lobel JS, Kocoshis SA, Naiman JL, Windmiller J, Lammi AT, Hoffman R, Marsh JC. 1979. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediat 95:976-984.
10. Leu(UUR) associated with mitochondrial diseases. FEBS Lett 433:269-274.
11. Rötig A, Colonna M, Bonnefont JP, Blanche S, Fischer A, Saudubray JM, Munnich A. 1989. Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet 1:902-903.
12. Rötig A, Cormier V, Koll F, Mize CE, Saudubray JM, Veerman A, Pearson HA, Munnich A. 1991. Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. Genomics 10:502-504.
13. Rötig A, Bourgeron T, Chretien D, Rustin P, Munnich A. 1995. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet 4:1327-1330.
14. Shanske S, Tang Y, Hirano M, Nishigaki Y, Tanji K, Bonilla E, Sue C, Krishna S, Carlo JR, Willner J, Schon EA, DiMauro S. 2002. Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with Pearson syndrome. Am J Hum Genet 71:679-683.
15. Tanaka M, Takeyasu T, Fuku N, Li-Jun G, Kurata M. 2004. Mitochondrial genome single nucleotide polymorphisms and their phenotypes in the Japanese. Ann NY Acad Sci 1011:7-20.