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Clinical, biochemical, and molecular analysis of a maternally inherited case of Leight syndrome (MILS) associated with the mtDNA T8993G point mutation
Author(s) -
Degoul F.,
Diry M.,
Rodriguez D.,
Robain O.,
François D.,
Ponsot G.,
Marsac C.,
Desguerre I.
Publication year - 1995
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02436757
Subject(s) - point mutation , human genetics , mitochondrial dna , genetics , mutation , biology , mutation testing , amino acid substitution , medicine , gene
Summary We report a new case of Leigh disease (subacute necrotizing encephalomyelopathy) in a girl with mitochondrial DNA (mtDNA) mutation in the ATPase6 gene at nucleotide position 8993. Sequence analysis of mtDNA revealed a T‐to‐G transversion at nucleotide position 8993 in the ATPase6 gene. Southern blot restriction analysis of patient muscle mtDNA showed only a mutant pattern for the mutation 8993. Molecular analysis of seven subjects from the family showed that except for the father they all carried the 8993 mtDNA mutation in all studied tissues, with high percentages in the two symptomatic children and even in one asymptomatic boy.