Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/12017
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dc.contributor.authorDelatycki, Martin Ben
dc.contributor.authorTai, Geneieveen
dc.contributor.authorCorben, Louise Aen
dc.contributor.authorYiu, Eppie Men
dc.contributor.authorEvans-Galea, Marguerite Ven
dc.contributor.authorStephenson, Sarah E Men
dc.contributor.authorGurrin, Lyleen
dc.contributor.authorAllen, Katrina Jen
dc.contributor.authorLynch, Daviden
dc.contributor.authorLockhart, Paul Jen
dc.date.accessioned2015-05-16T01:39:11Z
dc.date.available2015-05-16T01:39:11Z
dc.date.issued2014-01-03en
dc.identifier.citationMovement Disorders : Official Journal of the Movement Disorder Society 2014; 29(7): 940-3en
dc.identifier.govdoc24390816en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/12017en
dc.description.abstractFriedreich ataxia (FRDA) generally results from reduced frataxin, a mitochondrial protein involved in iron metabolism. We assessed whether HFE p.C282Y and/or p.H63D heterozygosity modifies age at disease onset or disease severity in individuals with FRDA.One hundred seventy individuals with FRDA were assessed for the association of HFE p.C282Y and p.H63D with (1) age at disease onset and (2) Friedreich Ataxia Rating Scale (FARS) score.After adjusting for the smaller FXN GAA repeat size and sex, individuals with FRDA and heterozygous for p.C282Y had disease onset on average 3.72 years earlier than those homozygous for the wild-type amino acid (Pā€‰=ā€‰0.02). Neither mutation affected disease severity as measured by FARS.It is hypothesized that the association between p.C282Y heterozygosity and an earlier age at FRDA onset relates to exacerbation of the already dysregulated iron metabolism that plays a major role in the pathogenesis of FRDA.en
dc.language.isoenen
dc.subject.otherFriedreich ataxiaen
dc.subject.otherHFEen
dc.subject.otherdisease severityen
dc.subject.othergenetic modifieren
dc.subject.otherhemochromatosisen
dc.subject.otherAdolescenten
dc.subject.otherAdulten
dc.subject.otherAge of Onseten
dc.subject.otherAgeden
dc.subject.otherChilden
dc.subject.otherFemaleen
dc.subject.otherFriedreich Ataxia.geneticsen
dc.subject.otherGenotypeen
dc.subject.otherHeterozygoteen
dc.subject.otherHistocompatibility Antigens Class I.geneticsen
dc.subject.otherHumansen
dc.subject.otherIron-Binding Proteins.geneticsen
dc.subject.otherMaleen
dc.subject.otherMembrane Proteins.geneticsen
dc.subject.otherMiddle Ageden
dc.subject.otherMitochondrial Proteins.metabolismen
dc.subject.otherPoint Mutation.geneticsen
dc.subject.otherYoung Adulten
dc.titleHFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia.en
dc.typeJournal Articleen
dc.identifier.journaltitleMovement disorders : official journal of the Movement Disorder Societyen
dc.identifier.affiliationBruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australiaen
dc.identifier.affiliationClinical Genetics, Austin Health, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationDepartment of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australiaen
dc.identifier.affiliationSchool of Psychology and Psychiatry, Monash University, Clayton, Victoria, Australiaen
dc.identifier.doi10.1002/mds.25795en
dc.description.pages940-3en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/24390816en
dc.type.austinJournal Articleen
local.name.researcherDelatycki, Martin B
item.openairetypeJournal Article-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.languageiso639-1en-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
crisitem.author.deptClinical Genetics-
Appears in Collections:Journal articles
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