Linked Life Data

20359921

Source:http://linkedlifedata.com/resource/pubmed/id/20359921

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2010-5-17
pubmed:abstractText
Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due in part to the biochemical complexity of mitochondrial respiration and the fact that two genomes, one mitochondrial and one nuclear, encode the components of the respiratory chain. Because of the large number of genes involved, attempts to classify mitochondrial RCD incorporate clinical, biochemical, and histological criteria, in addition to DNA-based molecular diagnostic testing. While molecular testing is widely viewed as definitive, confirmation of the diagnosis by molecular methods often remains a challenge because of the large number of genes, the two genome complexity and the varying proportions of pathogenic mitochondrial DNA (mtDNA) molecules in a patient, a concept termed heteroplasmy. The selection of genes to be analyzed depends on the family history and clinical, biochemical, histopathological, and imaging results, as well as the availability of different tissues for analysis. Screening of common point mutations and large deletions in mtDNA is typically the first step. In cases where tissue-specific, recognizable clinical syndromes or characteristic RC complex deficiencies and histochemical abnormalities are observed, direct sequencing of the specific causative nuclear gene(s) can be performed on white blood cell DNA. Measurement of mtDNA content in affected tissues such as muscle and liver allows screening for mtDNA depletion syndromes. The ever-expanding list of known disease-causing genes will undoubtedly improve diagnostic accuracy and genetic counseling.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1096-7206
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
100
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
111-7
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Current molecular diagnostic algorithm for mitochondrial disorders.
pubmed:affiliation
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. ljwong@bcm.edu
pubmed:publicationType
Journal Article, Review