2. Academic Validation
  3. SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

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

  • Nat Genet. 2009 Jun;41(6):654-6. doi: 10.1038/ng.378.
Daniele Ghezzi 1,  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
Affiliations

Affiliation

  • 1 Unit of Molecular Neurogenetics-Pierfranco and Luisa Mariani Center for Study of Children's Mitochondrial Disorders, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
PMID: 19465911 DOI: 10.1038/ng.378
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.

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