SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

Daniele Ghezzi, Paola Goffrini, Graziella Uziel, Rita Horvath, Thomas Klopstock, Hanns Lochmüller, Pio D'Adamo, Paolo Gasparini, Tim M. Strom, Holger Prokisch, Federica Invernizzi, Ileana Ferrero, Massimo Zeviani

Research output: Contribution to journalArticlepeer-review

Abstract

We report mutations in SDHAF1, encoding a new LYR-motif protein, in infantile leukoencephalopathy with defective succinate dehydrogenase (SDH, complex II). Disruption of the yeast homolog or expression of variants corresponding to human mutants caused SDH deficiency and failure of OXPHOS-dependent growth, whereas SDH activity and amount were restored in mutant fibroblasts proportionally with re-expression of the wild-type gene. SDHAF1 is the first bona fide SDH assembly factor reported in any organism.

Original languageEnglish
Pages (from-to)654-656
Number of pages3
JournalNature Genetics
Volume41
Issue number6
DOIs
Publication statusPublished - Jun 2009

ASJC Scopus subject areas

  • Genetics
  • Medicine(all)

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