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Pearson syndrome and the role of deletion dimers and duplications in the mtDNA
Author(s) -
Jacobs L. J. A. M.,
Jongbloed R. J. E.,
Wijburg F. A.,
Klerk J. B. C.,
Geraedts J. P. M.,
Nijland J. G.,
Scholte H. R.,
Coo I. F. M.,
Smeets H. J. M.
Publication year - 2004
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000016601.49372.18
Subject(s) - mitochondrial dna , lactic acidosis , biology , mutation , genetics , kearns–sayre syndrome , mitochondrial disease , phenotype , disease , gene duplication , human genetics , medicine , gene , endocrinology
Summary: Pearson syndrome is an often fatal multisystem disease associated with mitochondrial DNA rearrangements. Here we report a patient with a novel mtDNA deletion of 3.4 kb ranging from nucleotides 6097 to 9541 in combination with deletion dimers. The mutation percentage in different tissues (blood, muscle and liver) varied between 64% and 95%. After a remission period of about a year, the patient suddenly died at the age of 3 years owing to a severe lactic acidosis. A second patient with a previously reported deletion of 8 kb and a milder phenotype was found to have mitochondrial duplications and died at the age of 10 years. From these data and data from previous reports, we hypothesize that duplications might be beneficial in the clinical course of the disease and in life expectancy.