The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

ABSTRACT: Isolated complex I deficiency is the most frequently observed oxidative phosphorylation defect in children with mitochondrial disease, leading to a diverse range of clinical presentations, including Leigh syndrome. For most patients the genetic cause of the biochemical defect remains unknown due to incomplete understanding of the complex I assembly process. Nonetheless, a plethora of pathogenic mutations have been described to date in the seven mitochondrial-encoded subunits of complex I as well as in 12 of the nuclear-encoded subunits and in six assembly factors. Whilst several mitochondrial DNA mutations are recurrent, the majority of these mutations are reported in single families. We have sequenced core structural and functional nuclear-encoded subunits of complex I in a cohort of 34 p

SUBMITTER: Tuppen HA 

PROVIDER: S-EPMC2947428 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature