Pearson's syndrome

Pearson's syndrome

A severe MITOCHONDRIAL DNA disease caused by high levels of rearrangement of mtDNA in all tissues. The syndrome features sideroblastic anaemia, lactic acidosis or liver dysfunction, or both, and the possibility to progress to the KEARNS-SAYRE PHENOTYPE.
References in periodicals archive ?
mtDNA point mutations and deletion mutations were initially considered to be linked with mitochondrial diseases, such as Pearson's syndrome, Kearns-Sayre syndrome (KSS), Alzheimer's disease, and progressive external ophthalmoplegia [4, 5].
The sample belonged to a healthy man without clinical symptoms of heart diseases, Pearson's syndrome, KSS, Alzheimer's disease, or the other obvious diseases.
Quantification of total mitochondrial DNA and the 4977-bp common deletion in Pearson's syndrome lymphoblasts using a fluorogenic 5'-nuclease (TaqMan) real-time polymerase chain reaction assay and plasmid external calibration standards.