Complex I disorders: causes, mechanisms, and development of treatment strategies at the cellular level.
until further notice
SourceDevelopmental Disabilities Research Reviews, 16, 2, (2010), pp. 175-182
1 juni 2010
Article / Letter to editor
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Cell Biology (UMC)
Paediatrics - OUD tm 2017
Laboratory of Genetic, Endocrine and Metabolic Diseases
Developmental Disabilities Research Reviews
SubjectIGMD 8: Mitochondrial medicine; NCMLS 4: Energy and redox metabolism
Mitochondrial oxidative phosphorylation (OXPHOS) represents the final step in the conversion of nutrients into cellular energy. Genetic defects in the OXPHOS system have an incidence between 1:5,000 and 1:10,000 live births. Inherited isolated deficiency of the first complex (CI) of this system, a multisubunit assembly of 45 different proteins, occurs most frequently and originates from mutations in either the nuclear DNA, encoding 38 structural subunits and several assembly factors, or the mitochondrial DNA, encoding 7 structural subunits. The deficiency is associated with devastating multisystemic disorders, often affecting the brain, with onset in early childhood. There are currently no rational treatment strategies. Here, we present an overview of the genetic origins and cellular consequences of this deficiency and discuss how these insights might aid future development of treatment strategies.
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