In:
Neuroepidemiology, S. Karger AG, Vol. 38, No. 2 ( 2012), p. 114-119
Abstract:
〈 i 〉 Background: 〈 /i 〉 Progressive external ophthalmoplegia (PEO) is a common phenotype of mitochondrial disease. Molecu- lar etiologies include sporadic, large-scale deletions in mitochondrial DNA (mtDNA), multiple mtDNA deletions secondary to autosomal dominant or recessive mutations and mtDNA point mutations. 〈 i 〉 Methods: 〈 /i 〉 We studied the prevalence and clinical and genetic characteristics of PEO in a defined population in southwestern Finland. A total of 620 patients were first identified from the patient registry at the Turku University Hospital over an 18-year period. The medical records of these patients were scrutinized, and those with clinical features compatible with PEO were ascertained. 〈 i 〉 Results: 〈 /i 〉 We identified 10 patients with possible PEO. The patients were examined clinically, and DNA was analyzed for mtDNA deletions and for the m.3243A 〉 G and m.8344A 〉 G mtDNA point mutations. The 〈 i 〉 ANT1 〈 /i 〉 , 〈 i 〉 PEO1 〈 /i 〉 , 〈 i 〉 POLG1 〈 /i 〉 and 〈 i 〉 POLG2 〈 /i 〉 genes were sequenced. We confirmed the clinical diagnosis of PEO in 6 patients. Large-scale mtDNA deletions were detected in 3 out of 6 PEO patients and mutations in the 〈 i 〉 POLG1 〈 /i 〉 gene in 1 out of 6. We did not find any mutations in the 〈 i 〉 ANT1 〈 /i 〉 , 〈 i 〉 PEO1 〈 /i 〉 or 〈 i 〉 POLG2 〈 /i 〉 genes. 〈 i 〉 Conclusions: 〈 /i 〉 Our results suggest that molecular investigation of patients with PEO, either sporadic or familial, should start with an analysis for mtDNA deletions, followed by an analysis of the 〈 i 〉 POLG1 〈 /i 〉 gene.
Type of Medium:
Online Resource
ISSN:
0251-5350
,
1423-0208
Language:
English
Publisher:
S. Karger AG
Publication Date:
2012
detail.hit.zdb_id:
1483032-2
