Journal article
HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia
MB Delatycki, G Tai, L Corben, EM Yiu, MV Evans-Galea, SEM Stephenson, L Gurrin, KJ Allen, D Lynch, PJ Lockhart
Movement Disorders | Published : 2014
DOI: 10.1002/mds.25795
Abstract
Background: 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. Methods: 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. Results: 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 (P=0.02). Neither ..
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Funding Acknowledgements
This study was supported by the Friedreich Ataxia Research Association (Australasia), Friedreich Ataxia Research Alliance (USA), Muscular Dystrophy Association, Australian Rotary Health Fund, and Collier Charitable Fund as well as the Victorian State Government Operational Infrastructure Support and Australian Government NHMRC IRIISS.