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.
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.
Authors: Tuomas Komulainen; Milla-Riikka Hautakangas; Reetta Hinttala; Salla Pakanen; Vesa Vähäsarja; Petri Lehenkari; Päivi Olsen; Päivi Vieira; Outi Saarenpää-Heikkilä; Johanna Palmio; Hannu Tuominen; Pietari Kinnunen; Kari Majamaa; Heikki Rantala; Johanna Uusimaa Journal: JIMD Rep Date: 2015-05-05
Authors: Tuomas Komulainen; Reetta Hinttala; Mikko Kärppä; Leila Pajunen; Saara Finnilä; Hannu Tuominen; Heikki Rantala; Ilmo Hassinen; Kari Majamaa; Johanna Uusimaa Journal: BMC Neurol Date: 2010-05-03 Impact factor: 2.474
Authors: Heidi K Soini; Antti Väisänen; Mikko Kärppä; Reetta Hinttala; Laura Kytövuori; Jukka S Moilanen; Johanna Uusimaa; Kari Majamaa Journal: BMC Med Genet Date: 2017-02-10 Impact factor: 2.103
Authors: Jin Kyun Oh; Jose Ronaldo Lima de Carvalho; Yan Nuzbrokh; Joseph Ryu; Teja Chemudupati; Vinit B Mahajan; Janet R Sparrow; Stephen H Tsang Journal: Invest Ophthalmol Vis Sci Date: 2020-10-01 Impact factor: 4.799