© 2007 The Author(s)
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Scientific Commentaries |
Mutations in SUCLA2: a tandem ride back to the Krebs cycle
Mitochondrial Research Group and Institute of
Human Genetics
Newcastle University
The Medical School
Framlington Place
Newcastle upon Tyne
NE2 4HH, UK
E-mail: p.f.chinnery@ncl.ac.uk
| The first 150 words of the full text of this article appear below. |
Mitochondria are small membrane-bound intracellular organelles that are the principal source of adenosine triphosphate (ATP), the high-energy phosphate molecule required by all human cells. ATP is produced by the mitochondrial respiratory chain which is linked to oxidative phosphorylation. Thirteen essential respiratory chain polypeptides are synthesized from small circles of DNA present within each mitochondrion (the mitochondrial genome, mtDNA). Qualitative defects of mtDNA are a major cause of human disease: both point mutations and deletions of mtDNA cause a biochemical defect which often affects skeletal muscle and the nervous system, presenting with neurological features (Zeviani and Di Donato, 2004
).
MtDNA is inherited exclusively down the maternal line, and pathogenic mtDNA mutations are either maternally inherited or sporadic, affecting at least 1 in 5000 (Schaefer et al., 2004). More recently, autosomal recessive mitochondrial disorders have gained increasing prominence (Table 1). Mutations have been described in nuclear genes