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

被引：180

作者：

Ghezzi, Daniele ^{[1
]}

Goffrini, Paola ^{[2
]}

Uziel, Graziella ^{[3
]}

Horvath, Rita ^{[4
,5
]}

Klopstock, Thomas ^{[5
]}

Lochmueller, Hanns ^{[5
,6
]}

D'Adamo, Pio ^{[7
]}

Gasparini, Paolo ^{[7
]}

Strom, Tim M. ^{[8
]}

Prokisch, Holger ^{[8
]}

Invernizzi, Federica ^{[1
]}

Ferrero, Ileana ^{[2
]}

Zeviani, Massimo ^{[1
]}

机构：

[1] Fdn IRCCS Neurol Inst C Besta, Pierfranco & Luisa Mariani Ctr Study Childrens Mi, Unit Mol Neurogenet, Milan, Italy

[2] Univ Parma, Dept Genet Anthropol Evolut, I-43100 Parma, Italy

[3] Fdn IRCCS Neurol Inst C Besta, Dept Child Neurol, Milan, Italy

[4] Univ Newcastle, Mitochondrial Res Grp, Newcastle Upon Tyne, Tyne & Wear, England

[5] Univ Munich, Friedrich Baur Inst, Munich, Germany

[6] Univ Newcastle, Inst Human Genet, Newcastle Upon Tyne, Tyne & Wear, England

[7] Univ Trieste, IRCCS Burlo Garofolo, Dept Med Genet, Trieste, Italy

[8] Helmholtz Zentrum, Inst Human Genet, Munich, Germany

来源：

NATURE GENETICS | 2009年 / 41卷 / 06期

关键词：

FLAVOPROTEIN GENE; MUTATIONS; PARAGANGLIOMA; DEFICIENCY; SUCCINATE;

D O I：

10.1038/ng.378

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：654 / 656

页数：3

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