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A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome
Author(s) -
de Vries D. Daniëlle,
van Engelen Baziel G. M.,
Gabreëls Fons J. M.,
Ruitenbeek Wim,
van Oost Bernard A.
Publication year - 1993
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410340319
Subject(s) - heteroplasmy , leigh disease , missense mutation , genetics , mutation , biology , mitochondrial dna , gene
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.