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Title: HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia.
Authors: Delatycki, Martin B;Tai, Geneieve;Corben, Louise A;Yiu, Eppie M;Evans-Galea, Marguerite V;Stephenson, Sarah E M;Gurrin, Lyle;Allen, Katrina J;Lynch, David;Lockhart, Paul J
Affiliation: Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia
Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia
School of Psychology and Psychiatry, Monash University, Clayton, Victoria, Australia
Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia
Issue Date: 3-Jan-2014
Citation: Movement Disorders : Official Journal of the Movement Disorder Society 2014; 29(7): 940-3
Abstract: Friedreich 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.
Internal ID Number: 24390816
DOI: 10.1002/mds.25795
Type: Journal Article
Subjects: Friedreich ataxia
disease severity
genetic modifier
Age of Onset
Friedreich Ataxia.genetics
Histocompatibility Antigens Class I.genetics
Iron-Binding Proteins.genetics
Membrane Proteins.genetics
Middle Aged
Mitochondrial Proteins.metabolism
Point Mutation.genetics
Young Adult
Appears in Collections:Journal articles

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