Linked Life Data

7566465

Source:http://linkedlifedata.com/resource/pubmed/id/7566465

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1995-10-30
pubmed:abstractText
In an attempt to identify a possible defect of mitochondrial metabolism in Rett syndrome we studied 9 girls with typical Rett syndrome using a clinical protocol designed to identify disorders of oxidative metabolism. One girl, (RO) had marked lactic acidemia. Biochemical studies on samples from these patients included leukocyte pyruvate carboxylase assay, serum biotinidase and skin fibroblast pyruvate production, pyruvate dehydrogenase, citrate synthetase and 2-oxoglutarate dehydrogenase assay. Muscle electron transport activities were studied on samples from 4 typical Rett patients including RO. Mitochondrial DNA (mtDNA) mutational analysis for the np3243 MELAS mutation, the np8993 NARP mutation, the np8344 MERFF mutation and the 4977 kb common deletion found in Kearns-Sayre syndrome and aged tissues were tested for in 1 of the muscle samples and 2 blood samples from typical Rett patients. Western blotting of electron transport complex III was performed on mitochondrial samples obtained from autopsy brain tissue in 2 Rett patients and compared to pediatric control brain samples. No abnormalities were found in blood biotinidase or pyruvate carboxylase. Western blotting of 2 Rett brain mitochondrial samples for complex III appear normal. Pyruvate consumption in medium from 8 Rett fibroblast lines grown with and without dichloroacetate (DCA) showed a normal fall in pyruvate suggesting normal pyruvate dehydrogenase activity in these cells, however the fibroblasts from patient RO had a high pyruvate production in culture. Pyruvate dehydrogenase, 2-oxo-glutarate dehydrogenase and citrate synthetase activities in 8 Rett fibroblast lines were normal.(ABSTRACT TRUNCATED AT 250 WORDS)
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0174-304X
pubmed:author
pubmed:issnType
Print
pubmed:volume
26
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
95-9
pubmed:dateRevised
2008-1-16
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
Oxidative metabolism in Rett syndrome: 2. Biochemical and molecular studies.
pubmed:affiliation
Department of Pediatrics, University of California, San Diego, USA.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, U.S. Gov't, P.H.S.