Jacobs L J A M, Jongbloed R J E, Wijburg F A, de Klerk J B C, Geraedts J P M, Nijland J G, Scholte H R, de Coo I F M, Smeets H J M
Department of Genetics and Cell Biology, University of Maastricht, Research Institute Growth and Development (GROW), Maastricht.
J Inherit Metab Dis. 2004;27(1):47-55. doi: 10.1023/B:BOLI.0000016601.49372.18.
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.
皮尔逊综合征是一种常致命的多系统疾病，与线粒体DNA重排相关。在此，我们报告一名患者，其线粒体DNA发生了3.4 kb的新型缺失，范围从核苷酸6097至9541，并伴有缺失二聚体。不同组织（血液、肌肉和肝脏）中的突变百分比在64%至95%之间变化。经过约一年的缓解期后，该患者在3岁时因严重乳酸酸中毒突然死亡。发现另一名先前报告有8 kb缺失且表型较轻的患者存在线粒体重复，并在10岁时死亡。根据这些数据以及先前报告的数据，我们推测重复可能在该疾病的临床病程和预期寿命方面有益。
