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Pediatric and Developmental Pathology
Erschienen in: Pediatric and Developmental Pathology 6/2004

01.12.2004 | Symposium on Mitochondrial Disease

Biochemical Approach to the Investigation of Pediatric Mitochondrial Disease

verfasst von: Hilary Vallance

Erschienen in: Pediatric and Developmental Pathology | Ausgabe 6/2004

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Excerpt

The respiratory chain consists of 5 enzymatic components (complexes I to V), each of which contains multiple subunits that are intricately arranged in the inner mitochondrial membrane. All but 1 complex (complex II) have nuclearly and mitochondrially encoded protein subunits. The mitochondrial DNA (mtDNA) encodes 13 subunits and all the tRNAs required for protein translation. However, the mtDNA encodes only a fraction of the proteins required for normal respiratory chain function. In addition to the nuclearly encoded respiratory chain subunits, many more nuclear genes encode assembly and regulatory proteins essential for the normal structure and function of the respiratory chain. Thus, defects in mtDNA or nuclear genes can cause respiratory chain (mitochondrial) disease. …
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Metadaten
Titel
Biochemical Approach to the Investigation of Pediatric Mitochondrial Disease
verfasst von
Hilary Vallance
Publikationsdatum
01.12.2004
Erschienen in
Pediatric and Developmental Pathology / Ausgabe 6/2004
Print ISSN: 1093-5266
Elektronische ISSN: 1615-5742
DOI
https://doi.org/10.1007/s10024-004-5053-2

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