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Title: Age-dependent differences in androgen binding affinity in a family with spinal and bulbar muscular atrophy.
Austin 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
Issue Date: 1-Jul-2005
Publication information: 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.
Gov't Doc #: 15978183
DOI: 10.1179/016164105X39851
Journal: Neurological research
Type: Journal Article
Subjects: Adult
Blotting, Southern
Family Health
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
Trinucleotide Repeats.genetics
Appears in Collections:Journal articles

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