© 1995 Oxford University Press
OTHER |
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome
Unité de Recherches sur les Handicaps Génétiques de I'Enfant, INSERM U393, Hôpital des Enfants Malades 149 rue de Sèvres, 75743 Paris Cedex 15, France
*To whom correspondence should be addressed
Received January 24, 1995; Revised May 24, 1995; Accepted May 24, 1995
The Pearson marrow-pancreas syndrome (MIM 557000 [OMIM] ) is a disorder involving the hematopoietic system and the exocrine pancreas in early infancy. We have previously shown that this disease results from a defect of oxidative phosphorylation associated with deletions of the mitochondrial DNA. We present here a series of 21 cases (including 15 unreported patients) with Pearson syndrome and describe mitochondrial DNA deletions as consistent features in this syndrome. Nine patients presented the same 4.9 kb deletion, while other patients presented different deletions ranging in size from 9 to 14 kb between tRNAcyst and the D-loop. Direct repeats (4–13 bp) were consistently present in the wild-type mtDNA at the boundaries of the deletions. Deletion-dimers, deletion-multimers or duplications were observed in association with deletions. Duplications were identified both in patients who died of their Pearson syndrome and in the ones who survived and developed Kearns—Sayre syndrome, suggesting that no correlation could be made between the clinical severity and the type, size or location of the rearrangements.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  D. C. Wallace and W. Fan The pathophysiology of mitochondrial disease as modeled in the mouse Genes & Dev., August 1, 2009; 23(15): 1714 - 1736. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. Aure, H. Ogier de Baulny, P. Laforet, C. Jardel, B. Eymard, and A. Lombes Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression? Brain, June 1, 2007; 130(6): 1516 - 1524. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L.J.A.M. Jacobs, G. de Wert, J.P.M. Geraedts, I.F.M. de Coo, and H.J.M. Smeets The transmission of OXPHOS disease and methods to prevent this Hum. Reprod. Update, March 1, 2006; 12(2): 119 - 136. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. Ogasawara, K. Nakayama, M. Tarnowka, J. P. McCoy Jr, S. Kajigaya, B. C. Levin, and N. S. Young Mitochondrial DNA spectra of single human CD34+ cells, T cells, B cells, and granulocytes Blood, November 1, 2005; 106(9): 3271 - 3284. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. G. Shin, S. Kajigaya, M. Tarnowka, J. P. McCoy Jr, B. C. Levin, and N. S. Young Mitochondrial DNA sequence heterogeneity in circulating normal human CD34 cells and granulocytes Blood, June 15, 2004; 103(12): 4466 - 4477. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. T. Curtin The myelodysplastic syndromes: heterogeneneity on many levels Blood, February 15, 2004; 103(4): 1181 - 1182. [Full Text] [PDF]
|
|
|
|
|
|
M. G. Shin, S. Kajigaya, J. P. McCoy Jr, B. C. Levin, and N. S. Young Marked mitochondrial DNA sequence heterogeneity in single CD34+ cell clones from normal adult bone marrow Blood, January 15, 2004; 103(2): 553 - 561. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L-J C Wong, C-L Perng, C-H Hsu, R-K Bai, S Schelley, G D Vladutiu, H Vogel, and G M Enns Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load J. Med. Genet., November 1, 2003; 40(11): e125 - 125. [Full Text] [PDF]
|
|
|
|
|
|
A Solano, J Gamez, F J Carod, M Pineda, A Playan, E Lopez-Gallardo, A L Andreu, and J Montoya Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA J. Med. Genet., July 1, 2003; 40(7): e86 - 86. [Full Text] [PDF]
|
|
|
|
|
|
M. G. Shin, S. Kajigaya, B. C. Levin, and N. S. Young Mitochondrial DNA mutations in patients with myelodysplastic syndromes Blood, April 15, 2003; 101(8): 3118 - 3125. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Quintana-Murci, A. Rotig, A. Munnich, P. Rustin, and T. Bourgeron Mitochondrial DNA inheritance in patients with deleted mtDNA J. Med. Genet., September 1, 2001; 38(9): e28 - 28. [Full Text] [PDF]
|
|
|
|
 |
|
 O. A. Kajander, A. T. Rovio, K. Majamaa, J. Poulton, J. N. Spelbrink, I. J. Holt, P. J. Karhunen, and H. T. Jacobs Human mtDNA sublimons resemble rearranged mitochondrial genomes found in pathological states Hum. Mol. Genet., November 1, 2000; 9(19): 2821 - 2835. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Bogliolo, A. Izzotti, S. De Flora, C. Carli, A. Abbondandolo, and P. Degan Detection of the `4977 bp' mitochondrial DNA deletion in human atherosclerotic lesions Mutagenesis, January 1, 1999; 14(1): 77 - 82. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Nicolino, T. Ferlin, M. Forest, C. Godinot, H. Carrier, M. David, P. Chatelain, and B. Mousson Identification of a Large-Scale Mitochondrial Deoxyribonucleic Acid Deletion in Endocrinopathies and Deafness: Report of Two Unrelated Cases with Diabetes Mellitus and Adrenal Insufficiency, Respectively J. Clin. Endocrinol. Metab., September 1, 1997; 82(9): 3063 - 3067. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A A M Morris, P J Lamont, and P T Clayton Pearson's syndrome without marrow involvement Arch. Dis. Child., July 1, 1997; 77(1): 56 - 57. [Abstract] [Full Text]
|
|
|
|
 |
|
 M. P.C. van de Corput, J. M.W. van den Ouweland, R. W. Dirks, L. M. 't Hart, G. Jan. Bruining, J. A. Maassen, and A. K. Raap Detection of Mitochondrial DNA Deletions in Human Skin Fibroblasts of Patients with Pearson's Syndrome by Two-color Fluorescence In Situ Hybridization J. Histochem. Cytochem., January 1, 1997; 45(1): 55 - 62. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E. Schollen, P. Vandenberk, J.-J. Cassiman, and G. Matthijs Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy Clin. Chem., January 1, 1997; 43(1): 18 - 23. [Abstract] [Full Text] [PDF]
|
|