Linked Life Data

12000359

Source:http://linkedlifedata.com/resource/pubmed/id/12000359

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2002-5-9
pubmed:abstractText
Cerebrotendinous xanthomatosis (CTX) is a rare recessive autosomal disease caused by mutations of the sterol 27-hydroxylase gene. Clinically, CTX is characterized by tendon xanthomas, cataracts and progressive neurological deficits. Because of the disruption of the 27-hydroxylase activity, CTX patients have elevated plasma levels of cholestanol, a by-product of abnormal bile acid synthesis. The present authors describe a female patient with CTX. The proband in this study presented with elevated cholestanol levels, markedly reduced mitochondrial 27-hydroxylase activity and altered bile acid composition. The 27-hydroxylase gene was analysed for mutations by polymerase chain reaction amplification of the exons and the splice-junction regions of the gene. The proband was found to be a compound heterozygote for two different mutations which have not been previously described: (1) a G --> A transition at nucleotide 455 that is responsible for converting a glycine to a glutamic acid residue at amino acid position 112 (G112E); and (2) a five-nucleotide deletion in exon 5 (from nucleotide 965 to 969) that is responsible for a shift in the reading frame and the insertion of a premature codon at position 296, and consequently, the synthesis of a truncated protein lacking the heme-binding and andrenodoxin-binding domains. Long-term (18-year) treatment of the proband with chenodeoxycholic acid (750 mg day-1) has been effective in preventing any progression of the disease.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
61
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
185-91
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.
pubmed:affiliation
Lipid Metabolism Laboratory, Jean Mayer USDA Human Nutrition Research Center on Aging at Tufts University, and Division of Endocrinology, Metabolism, and Molecular Biology, New England Medical Center, Boston, MA, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, U.S. Gov't, Non-P.H.S., Case Reports, Research Support, Non-U.S. Gov't