Progression in a Case of Kearns-Sayre Syndrome

Abstract

The quantitative relationship between deleted mitochondrial DNA and the clinical course of patients with Kearns-Sayre syndrome is poorly understood. We investigated this point using tissue samples obtained at age 10 years when the patient was diagnosed as Kearns-Sayre syndrome and at age 20 years when he died of disseminated intravascular coagulation. By long polymerase chain reaction, a shortened mitochondrial genome (8.8 kb; normal, 16.6 kb) was detected in the patient. By quantitative competitive polymerase chain reaction, the percentage of deletion-carrying mitochondrial DNA was not increased as expected and did not differ significantly by tissue type or sampling time or correlate with clinical course. Although we could not demonstrate that the amounts of wild-type mitochondrial DNA decreased with accelerating progression, it was emphasized that such a reduction of mitochondrial DNA in various tissues, including those of the central nervous system, could play a significant pathogenetic role, since only wild-type mitochondrial DNA is functional in patients with large-scale deletions of mitochondrial DNA.

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

“…MRI abnormalities have been shown to increase in parallel with the neurologic progression of KSS [ 25 ], and we observed this pattern in patients 1, 2, 3 and 4. MRIs revealed progression in all of the cases with the exception of case 8.…”

Recognition of mitochondrial DNA deletion syndrome with non-neuromuscular multisystemic manifestation

“…Thirteen reports were single patient cases with various clinical presentations. 8,9,11,15,16,[22][23][24][25][26][27][28][29] One report had 4 patients with hypoparathyroidism, 17 another had 7 patients with KSS, 3 one had 3 patients with Pearson syndrome, 14 one had 2 patients with multiple endocrine problems, 6 and another had 20 KSS patients. 19 Overall, 34 patients had typical KSS, CPEO, or MM, 14 patients had multisystemic disorders with initial presentation of non-neural, nonmuscular clinical manifestations.…”

Disease progression in patients with single, large-scale mitochondrial DNA deletions

“…We also excluded one patient with a highly unusual mitochondrial DNA deletion in the minor arc of the mitochondrial genome. Additional cases were obtained from other publications identified through PubMed not included in the study by López-Gallardo et al (2009) (Johns et al , 1989; Mita et al , 1989; Larsson and Holme, 1992; Oldfors et al , 1992; Ishikawa et al , 2000; Gellerich et al , 2002; Jacobs et al , 2004; Sadikovic et al , 2010). These data are detailed in Supplementary Table 2.…”