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

C. Dionisi-Vici, S. Seneca, M. Zeviani, G. Fariello, M. Rlmoldi, E. Bertini, L. De Meirleir

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)2-8
Number of pages7
JournalJournal of Inherited Metabolic Disease
Volume21
Issue number1
DOIs
Publication statusPublished - 1998

Fingerprint

Leigh Disease
Ligases
Sudden Death
Point Mutation
Adenosine Triphosphatases
Adenosine Triphosphate
Corpus Striatum
Mutation
Mitochondrial DNA
Proline
Leucine
Genes
Necrosis
Nucleotides
Mothers
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Endocrinology
  • Genetics
  • Genetics(clinical)

Cite this

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. / Dionisi-Vici, C.; Seneca, S.; Zeviani, M.; Fariello, G.; Rlmoldi, M.; Bertini, E.; De Meirleir, L.

In: Journal of Inherited Metabolic Disease, Vol. 21, No. 1, 1998, p. 2-8.

Research output: Contribution to journalArticle

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AU - Bertini, E.

AU - De Meirleir, L.

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