Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.

TitleFulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.
Publication TypeJournal Article
Year of Publication1998
AuthorsDionisi-Vici, C, Seneca, S, Zeviani, M, Fariello, G, Rimoldi, M, Bertini, E, De Meirleir, L
JournalJ Inherit Metab Dis
Volume21
Issue1
Pagination2-8
Date Published1998 Feb
ISSN0141-8955
KeywordsAdenosine Triphosphatases, Cysteine, DNA, Mitochondrial, Humans, Infant, Leigh Disease, Male, Mitochondria, Pedigree, Point Mutation, Radiography, Sudden Infant Death, Threonine, Tomography Scanners, X-Ray Computed
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.

DOI10.1023/a:1005397227996
Alternate JournalJ. Inherit. Metab. Dis.
Citation Key10.1023/a:1005397227996
PubMed ID9501263