Linked Life Data

14762729

Source:http://linkedlifedata.com/resource/pubmed/id/14762729

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2004-2-5
pubmed:abstractText
Mitochondrial encephalomyopathies were described in the 60's when accumulation of mitochondria were observed in patients with exercise intolerance. The electronic transport chain is located in the mitochondria and forms the oxidative phosphorylation (OXPHOS) system that produces ATP in the cell. The electronic transport chain is coded by two different genomes, nuclear and mitochondrial, with different genetic characteristics. The main differences between nuclear and mitochondrial genetics are heteroplasmy and threshold effect, mitotic segregation and maternal inheritance. Mitochondrial diseases are due to defects in the genes encoding proteins involved in some mitochondrial pathways. Those genes may be ARNts, structural proteins of the electronic transport chain or associated proteins of the mitochondria (transporters or assembly proteins). Alterations in those genes may be point mutations, deletions or duplications in the mitochondrial DNA and alterations of the genomic signaling between nucleus and mitochondria.
pubmed:language
spa
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0213-4853
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
15-22
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
[Mitochondrial disorders: a classification for the 21st century].
pubmed:affiliation
Centro de Investigaciones en Bioquimica y Biologia Molecular, Hospital Vall d'Hebron, Barcelona, Spain. aandreu@vhebron.net
pubmed:publicationType
Journal Article, English Abstract, Review