Linked Life Data

15337247

Source:http://linkedlifedata.com/resource/pubmed/id/15337247

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2004-8-31
pubmed:abstractText
X-linked Adrenoleukodystrophy (X-ALD) is a neurodegenerative disease with an endocrinological component since, in addition to the nervous system, the adrenal cortex and the testis are mainly affected, with corresponding clinical signs. 5Alpha-reductase, a key enzyme in steroid hormone metabolism, catalyzes the conversion of testosterone into the potent androgen dihydrotestosterone and other metabolic steps in steroidogenesis. It is present in two isoforms, 5alpha-reductase isoform 1 and 2, that are encoded by different genes. The isoforms are differently expressed in the tissues, where they have distinct physiological relevance. Our study shows that the expression of isoform 2, evaluated by Real-Time PCR, is significantly altered in fibroblasts from patients affected by X-ALD with respect to controls, whereas isoform 1 is not affected. This is the first demonstration of an alteration of 5alpha-reductase isoform 2 gene expression in X-ALD, that may be related to the steroidogenesis impairment and to the specific organ malfunction.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0304-3940
pubmed:author
pubmed:issnType
Print
pubmed:day
9
pubmed:volume
367
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
269-72
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
New findings on X-linked Adrenoleukodystrophy: 5alpha-reductase isoform 2 relative gene expression is modified in affected fibroblasts.
pubmed:affiliation
Department of Pharmacological Sciences, Centre of Excellence of Neurodegenerative Diseases, University of Milan, via Balzaretti 9, 20133, Italy. anna.petroni@unimi.it
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't