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Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population

From the Departments of Neurology (Drs. Remes, Kärppä, Moilanen, Helander, Rusanen, and Majamaa), Medical Biochemistry and Molecular Biology (Dr. Hassinen), Otorhinolaryngology (Drs. Uimonen and Sorri), and Internal Medicine (Drs. Majamaa-Voltti and Salmela), University of Oulu; and the Clinical Research Center (Drs. Remes, Kärppä, Moilanen, Helander, Rusanen, and Majamaa), Oulu University Hospital, Finland.

Address correspondence and reprint requests to Dr. Kari Majamaa, Department of Neurology, University of Oulu, P.O. Box 5000, FIN-90014 Oulu, Finland; e-mail: kari.majamaa{at}oulu.fi

Background: Large-scale mitochondrial DNA (mtDNA) deletions are associated with clinical conditions such as Kearns–Sayre syndrome and chronic progressive external ophthalmoplegia in adults and Pearson syndrome in children. Reported case series have suggested that deletions are not uncommon in the population, but their prevalence has not been documented.

Methods: The authors ascertained patients with clinical features associated with mtDNA deletions in a defined adult population in northern Finland. Buccal epithelial samples were requested from each patient fulfilling the selection criteria, and full-length mtDNA was amplified using the long PCR method. Deletion breakpoints were identified using sequencing. Patients with deletions were examined clinically.

Results: The authors identified four patients with single large-scale mtDNA deletions. The prevalence of deletions was calculated to be 1.6/100,000 in the adult population in the province of Northern Ostrobothnia (0.0 to 3.2; 95% CI). Analysis of incident cases from a neighboring province revealed two patients with deletions and yielded a similar population frequency.

Conclusions: The frequency of large-scale mitochondrial DNA deletions is similar among populations, suggesting that there is a constant rate of new deletions.

Supported by grants from the Medical Research Council of the Academy of Finland, the Sigrid Juselius Foundation, and the Maud Kuistila Foundation.

Received February 27, 2004. Accepted in final form November 19, 2004.

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