Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/9947
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dc.contributor.authorMacLean, Helen Een
dc.contributor.authorGonzales, Michaelen
dc.contributor.authorGreenland, Karen Jen
dc.contributor.authorWarne, Garry Len
dc.contributor.authorZajac, Jeffrey Den
dc.date.accessioned2015-05-15T23:14:24Z
dc.date.available2015-05-15T23:14:24Z
dc.date.issued2005-07-01en
dc.identifier.citationNeurological Research; 27(5): 548-51en
dc.identifier.govdoc15978183en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/9947en
dc.description.abstractTo 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.en
dc.language.isoenen
dc.subject.otherAdulten
dc.subject.otherAgeden
dc.subject.otherAging.physiologyen
dc.subject.otherBlotting, Southernen
dc.subject.otherFamily Healthen
dc.subject.otherFemaleen
dc.subject.otherHumansen
dc.subject.otherMaleen
dc.subject.otherMetribolone.pharmacokineticsen
dc.subject.otherMiddle Ageden
dc.subject.otherMuscular Atrophy, Spinal.classification.genetics.metabolism.pathologyen
dc.subject.otherPolymerase Chain Reaction.methodsen
dc.subject.otherPostmortem Changesen
dc.subject.otherProtein Binding.drug effects.physiologyen
dc.subject.otherRadioligand Assay.methodsen
dc.subject.otherReceptors, Androgen.genetics.metabolismen
dc.subject.otherTestis.physiologyen
dc.subject.otherTrinucleotide Repeats.geneticsen
dc.subject.otherTritium.pharmacokineticsen
dc.titleAge-dependent differences in androgen binding affinity in a family with spinal and bulbar muscular atrophy.en
dc.typeJournal Articleen
dc.identifier.journaltitleNeurological researchen
dc.identifier.affiliationDepartment of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australiaen
dc.identifier.doi10.1179/016164105X39851en
dc.description.pages548-51en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/15978183en
dc.type.austinJournal Articleen
local.name.researcherZajac, Jeffrey D
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.languageiso639-1en-
item.openairetypeJournal Article-
crisitem.author.deptEndocrinology-
crisitem.author.deptMedicine (University of Melbourne)-
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