Complex I disorders: causes, mechanisms, and development of treatment strategies at the cellular level.

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Publication year
2010Source
Developmental Disabilities Research Reviews, 16, 2, (2010), pp. 175-182ISSN
Annotation
1 juni 2010
Publication type
Article / Letter to editor

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Organization
Biochemistry (UMC)
Cell Biology (UMC)
Paediatrics - OUD tm 2017
Laboratory of Genetic, Endocrine and Metabolic Diseases
Journal title
Developmental Disabilities Research Reviews
Volume
vol. 16
Issue
iss. 2
Page start
p. 175
Page end
p. 182
Subject
IGMD 8: Mitochondrial medicine; NCMLS 4: Energy and redox metabolismAbstract
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.
This item appears in the following Collection(s)
- Academic publications [204994]
- Electronic publications [103242]
- Faculty of Medical Sciences [81051]
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