A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
By direct sequencing, we have discovered a novel heteroplasmic mutation (T-->C) at nucleotide position 8993 in the mitochondrial ATPase 6 gene in a family with Leigh's syndrome. Another mutation in the same codon (T8993G) has been reported before in Leigh's syndrome. As these two mutations led to different amino acid substitutions, it provides strong evidence for the relevance of ATP synthase dysfunction in maternally inherited Leigh's syndrome.
de Vries
D D
DD
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
van Engelen
B G
BG
Gabreëls
F J
FJ
Ruitenbeek
W
W
van Oost
B A
BA
D001483:Base Sequence; D003596:Cytosine; D004272:DNA, Mitochondrial / Q000097:blood / Q000235:genetics* / Q000302:isolation & purification; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000201:enzymology* / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes; D009838:Oligodeoxyribonucleotides; D016376:Oligonucleotides, Antisense; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D006180:Proton-Translocating ATPases / Q000235:genetics*; D015183:Restriction Mapping; D013941:Thymine
D004272:DNA, Mitochondrial; D009097:Multienzyme Complexes; D009838:Oligodeoxyribonucleotides; D016376:Oligonucleotides, Antisense; D003596:Cytosine; D006180:Proton-Translocating ATPases; D013941:Thymine