title: Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.
abstract: We report an Italian family in which the T-to-C point mutation at nucleotide 9176 of the mitochondrial adenosine triphosphate synthetase (mtATPase) 6 gene is associated with an early-onset fulminant form of Leigh syndrome and with sudden unexpected death in two siblings, respectively. Polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) analysis and direct sequencing revealed that the mutation was homoplasmic in mitochondrial DNA of the proband. The T9176C mutation changes a highly conserved leucine to a proline in subunit 6 of the mtATPase gene and is maternally inherited, but the maternal relatives are asymptomatic. This point mutation was initially described in two brothers with bilateral striatal necrosis, a milder variant of Leigh syndrome.
authors.affiliation: Department of Metabolism, Ospedale Bambino Gesù IRCCS, Rome, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Dionisi-Vici
authors.forename: S
authors.initials: S
authors.lastname: Seneca
authors.forename: M
authors.initials: M
authors.lastname: Zeviani
authors.forename: G
authors.initials: G
authors.lastname: Fariello
authors.forename: M
authors.initials: M
authors.lastname: Rimoldi
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: L
authors.initials: L
authors.lastname: De Meirleir
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D003545:Cysteine / Q000235:genetics; D004272:DNA, Mitochondrial; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008928:Mitochondria / Q000201:enzymology* / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D011859:Radiography; D013398:Sudden Infant Death; D013912:Threonine / Q000235:genetics; D015898:Tomography Scanners, X-Ray Computed
chemical_list: D004272:DNA, Mitochondrial; D013912:Threonine; D000251:Adenosine Triphosphatases; D003545:Cysteine