Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/9947
Title: Age-dependent differences in androgen binding affinity in a family with spinal and bulbar muscular atrophy.
Authors: MacLean, Helen E;Gonzales, Michael;Greenland, Karen J;Warne, Garry L;Zajac, Jeffrey D
Affiliation: Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia. hmaclean@unimelb.edu.au
Issue Date: 1-Jul-2005
Citation: Neurological Research; 27(5): 548-51
Abstract: To investigate androgen receptor (AR) function in spinal and bulbar muscular atrophy (SBMA).A kindred was identified with five individuals carrying the AR gene CAG repeat expansion that causes SBMA. Androgen binding was measured in cultured genital skin fibroblasts from three affected individuals. One newborn, pre-symptomatic, individual showed normal androgen binding, but two older, symptomatic individuals showed a decrease in androgen binding affinity. This difference was not related to AR CAG repeat size, as all affected individuals in this kindred had 49 repeats (normal range 6-35). Post-mortem analysis in one subject confirmed the signs of androgen insufficiency in the testis, with marked seminiferous tubule atrophy, and the absence of germinal cells. The characteristic neuronal depletion in the anterior horn gray matter was also observed.This report raises the possibility that age- or puberty-related changes in androgen binding could occur, which could potentially contribute to the progressive development of androgen resistance in affected men.
Internal ID Number: 15978183
URI: http://ahro.austin.org.au/austinjspui/handle/1/9947
DOI: 10.1179/016164105X39851
URL: http://www.ncbi.nlm.nih.gov/pubmed/15978183
Type: Journal Article
Subjects: Adult
Aged
Aging.physiology
Blotting, Southern
Family Health
Female
Humans
Male
Metribolone.pharmacokinetics
Middle Aged
Muscular Atrophy, Spinal.classification.genetics.metabolism.pathology
Polymerase Chain Reaction.methods
Postmortem Changes
Protein Binding.drug effects.physiology
Radioligand Assay.methods
Receptors, Androgen.genetics.metabolism
Testis.physiology
Trinucleotide Repeats.genetics
Tritium.pharmacokinetics
Appears in Collections:Journal articles

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