title: Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome.
abstract: 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 length and position between individuals but are similar within the different tissues of an individual suggesting that they arise during or before embryogenesis.
authors: INSERM U.298, CHRU, Angers, France.
authors: I
authors: I
authors: Nelson
authors: F
authors: F
authors: Degoul
authors: B
authors: B
authors: Obermaier-Kusser
authors: N
authors: N
authors: Romero
authors: C
authors: C
authors: Borrone
authors: C
authors: C
authors: Marsac
authors: J L
authors: JL
authors: Vayssiere
authors: K
authors: K
authors: Gerbitz
authors: M
authors: M
authors: Fardeau
authors: G
authors: G
authors: Ponsot
authors: P
authors: P
authors: Lestienne
mesh_terms: D001706:Biopsy; D015139:Blotting, Southern; D002872:Chromosome Deletion; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000302:isolation & purification; D005260:Female; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics* / Q000473:pathology; D008931:Mitochondria, Muscle / Q000737:chemistry; D009132:Muscles / Q000473:pathology; D009710:Nucleotide Mapping; D009886:Ophthalmoplegia / Q000235:genetics*; D010920:Placenta / Q000737:chemistry; D011247:Pregnancy; D015183:Restriction Mapping
chemical_list: D004272:DNA, Mitochondrial