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

TitleSDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.
Publication TypeJournal Article
Year of Publication2009
AuthorsGhezzi, D, Goffrini, P, Uziel, G, Horvath, R, Klopstock, T, Lochmüller, H, D'Adamo, P, Gasparini, P, Strom, TM, Prokisch, H, Invernizzi, F, Ferrero, I, Zeviani, M
JournalNat Genet
Volume41
Issue6
Pagination654-6
Date Published2009 Jun
ISSN1546-1718
KeywordsGenetic Complementation Test, Humans, Infant, Iron-Sulfur Proteins, Leukoencephalopathies, Mutation, Protein Subunits, Proteins, Sequence Deletion, Succinate Dehydrogenase, Yeasts
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.

DOI10.1038/ng.378
Alternate JournalNat. Genet.
Citation Key10.1038/ng.378
PubMed ID19465911
Grant ListGGP07019 / / Telethon / Italy