A case of Kearns-Sayre syndrome with the 4,977-bp common deletion associated with a novel 7,704-bp deletion.
Mitochondria from a patient diagnosed with Kearns-Sayre syndrome (KSS) exhibited severely diminished cytochrome c oxidase activity and at least four mitochondrial DNA (mtDNA) species: 9%-11% of the fulllength mtDNA (16.6 kb), 70%-75% of a 11.7-kb population (harboring the 4,977-bp common deletion), 2%-3% of a 10.5-kb population, and 12%-17% of a 8.9-kb population. The 8.9-kb mtDNA exhibited a secondary deletion that extended 7,704 bp from nucleotide 7,979 in the cox2 gene to nucleotide 15,683 in the cytb gene. To our knowledge, this is the first description of the presence of at least two large-scale deletions of mtDNA in KSS.
Vázquez-Acevedo
M
M
Departamento de Genética Molecular, Instituto de Fisiología, Celular, Universidad Nacional Autónoma de México, Apartado, Postal 70-243, 04510 México, D.F. Mexico.
Vázquez-Memije
M E
ME
Mutchinick
O M
OM
Morales
J J
JJ
García-Ramos
G
G
González-Halphen
D
D
D015139:Blotting, Southern; D002950:Citrate (si)-Synthase / Q000032:analysis; D003579:Cytochrome Reductases / Q000032:analysis; D017931:DNA Primers; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000378:metabolism; D003576:Electron Transport Complex IV / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000201:enzymology / Q000235:genetics*; D008297:Male; D010088:Oxidoreductases / Q000032:analysis; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
D017931:DNA Primers; D004272:DNA, Mitochondrial; D010088:Oxidoreductases; D003579:Cytochrome Reductases; D003576:Electron Transport Complex IV; D002950:Citrate (si)-Synthase