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Nucleic Acids Research, 1989, Vol. 17, No. 20 8117-8124
© 1989

MOLECULAR BIOLOGY

Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome

Isabelle Nelson, Françoise Degoul1, Bert Obermaier-kusser2, Norma Romero3, Carla Borrone4, Cécile Marsac1, Jean-Luc Vayssiere4, K. Gerbitz2, Michel Fardeau3, Gérard Ponsot5 and Patrick Lestienne*

INSERM U.298, CHRU 49033 Angers cedex, France 1INSERM U.75, CHU Necker 75730 Paris, France 2Institut für Klin. Chemie 8000 Munich 40, FRG 3INSERM U. 153 75005 Paris, France 4Laboratoire de Biologie Cellulaire Collége de France, 75231 Paris cedex 05 5Service de Neuropédiatrie, Hôpital Saint-Vincent-de-Paul 75730 Paris, France 6Istituto Giannina Gaslini Genova Quarto, Italy

*To whom correspondence should be addressed

Received July 21, 1989. Revised September 13, 1989. Accepted September 13, 1989.

Kearns-Sayre syndrome (KSS) is a progressive neuromuscular disease characterised by ophtalmoplegia, cardiac bloc branch, pigmentary retinopathy associated with abnormal mitochondrial function. We have studied the mitochondrial DNA organization of patients presenting KSS and have found large deletions ranging from 3 to 8,5 kilobase pairs. DNA molecules containing deletion are accompanied by the presence of the normal sized mtDNA molecule forming heteroplasmic genomes. The deletions always map in the region which is potentially single stranded during mitochondrial DNA replication. The deletions differ in lengh and position between individuals but are similar within the different tissues of an individual suggesting that they arise during or before embryogenesis.


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