Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies.
By using a combination of Southern blot hybridization analysis, polymerase-chain reaction amplification, and direct nucleotide sequencing, we studied deletions of mitochondrial DNA (mtDNA) in several nonfamilial patients with progressive external ophthalmoplegia and Kearns-Sayre syndrome, and in some of their direct relatives. Results suggest that the heteroplasmic mtDNA populations are already present at a very early stage of development, and that there is no direct transmission of mtDNA heteroplasmy by maternal inheritance.
Zeviani
M
M
Department of Biochemistry and Genetics, Istituto Nazionale Neurologico, Carlo Besta, Milan, Italy.
Gellera
C
C
Pannacci
M
M
Uziel
G
G
Prelle
A
A
Servidei
S
S
DiDonato
S
S
D001483:Base Sequence; D015139:Blotting, Southern; D004272:DNA, Mitochondrial / Q000032:analysis*; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics; D008969:Molecular Sequence Data; D009886:Ophthalmoplegia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014018:Tissue Distribution
D004272:DNA, Mitochondrial